Lista de obras - Michael R. Hayden - Dominio Público Uruguay

"Grasping the grey": patient understanding and interpretation of an intermediate allele predictive test result for Huntington disease.

artículo científico publicado en 2012

A 4 basepair deletion in exon 4 of the human lipoprotein lipase gene results in type I hyperlipoproteinemia

article

A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing

artículo científico publicado en 1994

A Common Mutation in the Lipoprotein Lipase Gene (N291S) Alters the Lipoprotein Phenotype and Risk for Cardiovascular Disease in Patients With Familial Hypercholesterolemia ⬇️

artículo científico publicado el 3 de marzo de 1998

A Huntingtin-based peptide inhibitor of caspase-6 provides protection from mutant Huntingtin-induced motor and behavioral deficits

artículo científico publicado en 2015

A Huntington disease-like neurodegenerative disorder maps to chromosome 20p.

artículo científico publicado en 1998

A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington disease

artículo científico publicado en 1993

A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease

artículo científico publicado en 2015

A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration.

artículo científico publicado en 1999

A clinical tool for reducing central nervous system depression among neonates exposed to codeine through breast milk.

artículo científico publicado en 2013

A coding variant in RARG confers susceptibility to anthracycline-induced cardiotoxicity in childhood cancer

artículo científico publicado en 2015

A common truncation variant of lipoprotein lipase (Ser447X) confers protection against coronary heart disease: the Framingham Offspring Study

artículo científico publicado en 1999

A fully humanized transgenic mouse model of Huntington disease.

artículo científico publicado en 2012

A functional ABCA1 gene variant is associated with low HDL-cholesterol levels and shows evidence of positive selection in Native Americans.

artículo científico publicado en 2010

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

artículo científico publicado en 2001

A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.

artículo científico publicado en 2003

A grand challenge: providing benefits of clinical genetics to those in need.

artículo científico publicado en 2011

A highly polymorphic locus very tightly linked to the Huntington's disease gene ⬇️

artículo científico publicado el 23 de junio de 1988

A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis

artículo científico publicado en 2004

A human huntingtin SNP alters post-translational modification and pathogenic proteolysis of the protein causing Huntington disease.

artículo científico publicado en 2018

A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis ⬇️

artículo científico publicado el 1 de mayo de 1995

A longitudinal study of magnetic resonance spectroscopy Huntington's disease biomarkers

artículo científico publicado en 2015

A low-copy repeat located in subtelomeric regions of 14 different human chromosomal termini ⬇️

artículo científico publicado el 1 de enero de 1991

A missense mutation Pro157 Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activity

artículo científico publicado en 1992

A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length.

artículo científico publicado en 2004

A new mutation for Huntington disease following maternal transmission of an intermediate allele

artículo científico publicado en 2014

A novel Glu421Lys substitution in the lipoprotein lipase gene in pregnancy-induced hypertriglyceridemic pancreatitis

article

A novel humanized mouse model of Huntington disease for preclinical development of therapeutics targeting mutant huntingtin alleles

artículo científico publicado en 2017

A novel microdeletion affecting the CETP gene raises HDL-associated cholesterol levels

artículo científico publicado en 2015

A novel pathogenic pathway of immune activation detectable before clinical onset in Huntington's disease

artículo científico publicado en 2008

A one-hit model of cell death in inherited neuronal degenerations

artículo científico publicado en 2000

A pharmacogenetic signature of high response to Copaxone in late-phase clinical-trial cohorts of multiple sclerosis.

artículo científico publicado en 2017

A polymorphic DNA marker at the D10S106 locus

artículo científico publicado en 1991

A polymorphic DNA probe located to human chromosome 4p16 (D4S62)

artículo científico publicado en 1987

A quantitative method for the specific assessment of caspase-6 activity in cell culture

artículo científico publicado en 2011

A role for epsin N-terminal homology/AP180 N-terminal homology (ENTH/ANTH) domains in tubulin binding

artículo científico publicado en 2003

A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry

article

A systematic review and meta-analysis of clinical variables used in Huntington disease research

artículo científico

A true mentor and pioneer in medical genetics.

artículo científico publicado en 2016

A whole brain longitudinal study in the YAC128 mouse model of Huntington's disease shows distinct trajectories of neurochemical, structural connectivity and volumetric changes

artículo científico publicado en 2018

A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington disease. ⬇️

artículo científico publicado en 1999

ABCA1 deficiency and cellular cholesterol accumulation increases islet amyloidogenesis in mice

artículo científico publicado en 2016

ABCA1 gene mutations, HDL cholesterol levels, and risk of ischemic heart disease

artículo científico publicado en 2008

ABCA1 in adipocytes regulates adipose tissue lipid content, glucose tolerance, and insulin sensitivity

artículo científico publicado en 2014

ABCA1 influences neuroinflammation and neuronal death

artículo científico publicado en 2013

ABCA1 is essential for efficient basolateral cholesterol efflux during the absorption of dietary cholesterol in chickens

artículo científico publicado en 2003

ABCA1 mRNA and protein distribution patterns predict multiple different roles and levels of regulation

artículo científico publicado en 2002

ABCA1 regulatory variants influence coronary artery disease independent of effects on plasma lipid levels.

artículo científico publicado en 2002

ABCA8 Regulates Cholesterol Efflux and High-Density Lipoprotein Cholesterol Levels.

artículo científico publicado en 2017

Aberrant palmitoylation in Huntington disease

artículo científico

Absence of behavioral abnormalities and neurodegeneration in vivo despite widespread neuronal huntingtin inclusions

artículo científico publicado en 2005

Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript

artículo científico publicado en 1996

Absence of stearoyl-CoA desaturase-1 ameliorates features of the metabolic syndrome in LDLR-deficient mice.

scientific article published on 24 October 2007

Absence of stearoyl-CoA desaturase-1 does not promote DSS-induced acute colitis.

artículo científico publicado en 2009

Accumulation of N-terminal mutant huntingtin in mouse and monkey models implicated as a pathogenic mechanism in Huntington's disease.

artículo científico publicado en 2008

Accurate determination of the number of CAG repeats in the Huntington disease gene using a sequence-specific internal DNA standard

artículo científico publicado en 1999

Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene

artículo científico publicado en 2005

Acidic and basic fibroblast growth factor-like immunoreactivity in the striatum and midbrain in Huntington's disease

artículo científico publicado en 1993

Activated caspase-6 and caspase-6-cleaved fragments of huntingtin specifically colocalize in the nucleus

artículo científico publicado en 2008

Acute hypertriglyceridemic pancreatitis during pregnancy due to homozygous lipoprotein lipase gene mutation

article

Adenosine-triphosphate-binding cassette transporter-1 trafficking and function

artículo científico publicado en 2010

Adoption and the communication of genetic risk: experiences in Huntington disease.

artículo científico publicado en 2011

Adverse drug reaction active surveillance: developing a national network in Canada's children's hospitals.

artículo científico publicado en 2009

Adverse psychological events occurring in the first year after predictive testing for Huntington's disease. The Canadian Collaborative Study Predictive Testing

artículo científico publicado en 1996

Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes.

artículo científico publicado en 2000

Age-dependent alterations of corticostriatal activity in the YAC128 mouse model of Huntington disease

artículo científico publicado en 2009

Age-dependent neurovascular abnormalities and altered microglial morphology in the YAC128 mouse model of Huntington disease

artículo científico publicado en 2011

Allele-specific suppression of mutant huntingtin using antisense oligonucleotides: providing a therapeutic option for all Huntington disease patients

artículo científico publicado en 2014

Allelic variation in the promoter region of the LDL receptor gene: analysis of an African-specific variant in the FP2 cis-acting regulatory element

artículo científico publicado en 2003

Alterations of plasma lipids in mice via adenoviral-mediated hepatic overexpression of human ABCA1.

artículo científico publicado en 2003

Altered NMDA receptor trafficking in a yeast artificial chromosome transgenic mouse model of Huntington's disease.

artículo científico publicado en 2007

Altered Regulation of Striatal Neuronal -Methyl-D-Aspartate Receptor Trafficking by Palmitoylation in Huntington Disease Mouse Model

Altered adult hippocampal neurogenesis in the YAC128 transgenic mouse model of Huntington disease

artículo científico publicado en 2010

Altered palmitoylation and neuropathological deficits in mice lacking HIP14.

artículo científico publicado en 2011

Altering cortical input unmasks synaptic phenotypes in the YAC128 cortico-striatal co-culture model of Huntington disease.

artículo científico publicado en 2018

Alternate transcripts expressed in response to diet reflect tissue-specific regulation of ABCA1

article

Amelioration of Hypertriglyceridemia with Hypo-Alpha-Cholesterolemia in LPL Deficient Mice by Hematopoietic Cell-Derived LPL ⬇️

artículo científico publicado el 29 de septiembre de 2011

Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin

artículo científico publicado en 1991

An Alu element retroposition in two families with Huntington disease defines a new active Alu subfamily

artículo científico publicado en 1993

An enhanced Q175 knock-in mouse model of Huntington disease with higher mutant huntingtin levels and accelerated disease phenotypes

artículo científico publicado en 2016

AnALS2gene mutation causes hereditary spastic paraplegia in a Pakistani kindred

article

Antisense oligonucleotide therapeutics for inherited neurodegenerative diseases

artículo científico

Antisense oligonucleotide-mediated correction of transcriptional dysregulation is correlated with behavioral benefits in the YAC128 mouse model of Huntington's disease

artículo científico publicado en 2013

Apolipoprotein B gene variants are involved in the determination of serum cholesterol levels: a study in normo- and hypelipidaemic individuals

article

Apolipoprotein CII-Padova (Tyr37-->stop) as a cause of chylomicronaemia in an Italian kindred from Siculiana.

artículo científico publicado en 1994

Application of principal component analysis to pharmacogenomic studies in Canada

article

Are we all of one mind? Clinicians' and patients' opinions regarding the development of a service protocol for predictive testing for Huntington disease. Canadian Collaborative Study for Predictive Testing for Huntington Disease

artículo científico publicado en 1995

Arrested epidermal morphogenesis in three newborn infants with a fatal genetic disorder (restrictive dermopathy).

artículo científico publicado en 1987

Assessment of French patients with LPL deficiency for French Canadian mutations ⬇️

artículo científico publicado el 1 de agosto de 1997

Association Between SLC16A5 Genetic Variation and Cisplatin-Induced Ototoxic Effects in Adult Patients With Testicular Cancer.

artículo científico publicado en 2017

Association between increased arterial-wall thickness and impairment in ABCA1-driven cholesterol efflux: an observational study

artículo científico publicado en 2002

Attitudes toward direct predictive testing for the Huntington disease gene. Relevance for other adult-onset disorders. The Canadian Collaborative Group on Predictive Testing for Huntington Disease

artículo científico publicado en 1993

Author Correction: Laquinimod treatment in the R6/2 mouse model

scholarly article published in Scientific Reports

Author response: Huntington disease reduced penetrance alleles occur at high frequency in the general population

artículo científico publicado en 2017

Automated deformation analysis in the YAC128 Huntington disease mouse model

artículo científico publicado en 2007

Autophagy in Huntington disease and huntingtin in autophagy

artículo científico

BDNF overexpression in the forebrain rescues Huntington's disease phenotypes in YAC128 mice

artículo científico publicado en 2010

Balance between synaptic versus extrasynaptic NMDA receptor activity influences inclusions and neurotoxicity of mutant huntingtin

artículo científico publicado en 2009

Beta-cell ABCA1 influences insulin secretion, glucose homeostasis and response to thiazolidinedione treatment

scientific journal article

Beyond disgust: impaired recognition of negative emotions prior to diagnosis in Huntington's disease

artículo científico publicado en 2007

Beyond the patient: the broader impact of genetic discrimination among individuals at risk of Huntington disease

artículo científico publicado en 2012

Bidirectional control of postsynaptic density-95 (PSD-95) clustering by Huntingtin

artículo científico publicado en 2013

Bilateral renal agenesis in twins

scientific article published on 01 May 1985

Biophysical and biological characterization of hairpin and molecular beacon RNase H active antisense oligonucleotides.

artículo científico publicado en 2015

Body weight is modulated by levels of full-length huntingtin

artículo científico publicado en 2006

Both hepatic and extrahepatic ABCA1 have discrete and essential functions in the maintenance of plasma high-density lipoprotein cholesterol levels in vivo

artículo científico publicado en 2006

Brain-derived neurotrophic factor does not influence age at neurologic onset of Huntington's disease

artículo científico publicado en 2006

CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup

artículo científico publicado en 2009

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.

artículo científico publicado en 2012

CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease

artículo científico publicado en 2013

CAG-encoded polyglutamine length polymorphism in the human genome

artículo científico publicado en 2007

CAG-repeat length and the age of onset in Huntington disease (HD): a review and validation study of statistical approaches

artículo científico publicado en 2010

CYP2D6 polymorphisms and codeine analgesia in postpartum pain management: a pilot study.

artículo científico publicado en 2011

Cancer pharmacogenomics in children: research initiatives and progress to date.

artículo científico publicado en 2013

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset

artículo científico publicado en 2013

Carriers of loss-of-function mutations in ABCA1 display pancreatic beta-cell dysfunction

artículo científico publicado en 2010

Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract

artículo científico publicado en 1998

Caspase cleavage of mutant huntingtin precedes neurodegeneration in Huntington's disease.

artículo científico publicado en 2002

Caspase-6 and neurodegeneration.

artículo científico publicado en 2011

Caspases and neurodegeneration: on the cutting edge of new therapeutic approaches.

artículo científico publicado en 2000

Caudate volume as an outcome measure in clinical trials for Huntington's disease: a pilot study

artículo científico publicado en 2003

Cell death attenuation by 'Usurpin', a mammalian DED-caspase homologue that precludes caspase-8 recruitment and activation by the CD-95 (Fas, APO-1) receptor complex

artículo científico publicado en 1998

Central Nervous System Depression of Neonates Breastfed by Mothers Receiving Oxycodone for Postpartum Analgesia

artículo científico publicado en 2011

Cerebrospinal fluid levels of orexin-A are not a clinically useful biomarker for Huntington disease.

artículo científico publicado en 2006

Chapter 15 Juvenile amyotrophic lateral sclerosis

artículo científico publicado en 2007

Characterization and organization of DNA sequences adjacent to the human telomere associated repeat (TTAGGG)n.

artículo científico publicado en 1990

Characterization of subventricular zone-derived progenitor cells from mild and late symptomatic YAC128 mouse model of Huntington's disease

artículo científico publicado en 2017

Cholesterol biosynthesis pathway is disturbed in YAC128 mice and is modulated by huntingtin mutation.

artículo científico publicado en 2007

Cholesterol defect is marked across multiple rodent models of Huntington's disease and is manifest in astrocytes

artículo científico publicado en 2010

Cholesterol in beta-cell dysfunction: the emerging connection between HDL cholesterol and type 2 diabetes.

artículo científico publicado en 2010

Cholesterol in islet dysfunction and type 2 diabetes

artículo científico publicado en 2008

Cholesterol metabolism in Huntington disease

artículo científico

Choosing an animal model for the study of Huntington's disease

artículo científico publicado en 2013

Chromosomal localization of the Huntingtin Associated Protein (HAP-1) gene in mouse and humans with radiation hybrid and interspecific backcross mapping

article

Clarity is essential when using Nucleotide number systems

artículo científico publicado en 2003

Cleavage at the 586 amino acid caspase-6 site in mutant huntingtin influences caspase-6 activation in vivo.

artículo científico publicado en 2010

Cleavage at the caspase-6 site is required for neuronal dysfunction and degeneration due to mutant huntingtin

artículo científico publicado en 2006

Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract

artículo científico publicado en 1996

Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease

artículo científico publicado en 2014

Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: candidate genes for ALS2.

artículo científico publicado en 2001

Codeine-related deaths: The role of pharmacogenetics and drug interactions

artículo científico publicado en 2014

Cognitive dysfunction precedes neuropathology and motor abnormalities in the YAC128 mouse model of Huntington's disease.

artículo científico publicado en 2005

Comment on Rickels et al. Loss-of-Function Mutations in ABCA1 and Enhanced β-Cell Secretory Capacity in Young Adults. Diabetes 2015;64:193-199.

artículo científico publicado en 2015

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region

artículo científico publicado en 2012

Common mutations in the lipoprotein lipase gene (LPL): effects on HDL-cholesterol levels in a Chinese Canadian population

artículo científico publicado en 2001

Common sequence variants of lipoprotein lipase: standardized studies of in vitro expression and catalytic function

artículo científico publicado en 1996

Communicating pharmacogenetic research results to breastfeeding mothers taking codeine: a pilot study of perceptions and benefits.

artículo científico publicado en 2010

Comparative Mitochondrial-Based Protective Effects of Resveratrol and Nicotinamide in Huntington's Disease Models

artículo científico publicado en 2016

Comparative efficacy and safety of pravastatin, nicotinic acid and the two combined in patients with hypercholesterolemia

article

Comparing the biological impact of glatiramer acetate with the biological impact of a generic

artículo científico publicado en 2014

Comparison of gemfibrozil and clofibrate on serum lipids in familial combined hyperlipidemia. A randomized placebo-controlled, double-blind, crossover clinical trial

artículo científico publicado en 1988

Complete functional rescue of the ABCA1-/- mouse by human BAC transgenesis

artículo científico publicado en 2005

Complete rescue of lipoprotein lipase-deficient mice by somatic gene transfer of the naturally occurring LPLS447X beneficial mutation

artículo científico publicado en 2005

Compositional differences between Copaxone and Glatopa are reflected in altered immunomodulation ex vivo in a mouse model

artículo científico publicado en 2017

Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250 ? Asn; Ser251 ? Cys) resulting in lipoprotein lipase (LPL) deficiency

article

Compound heterozygosity for frameshift mutations in the gene for lipoprotein lipase in a patient with early-onset chylomicronemia ⬇️

artículo científico publicado el 1 de enero de 1998

Constitutive ablation of caspase-6 reduces the inflammatory response and behavioural changes caused by peripheral pro-inflammatory stimuli

artículo científico publicado en 2018

Convergent pathogenic pathways in Alzheimer's and Huntington's diseases: shared targets for drug development.

artículo científico publicado en 2011

Correction of Hypertriglyceridemia and Impaired Fat Tolerance in Lipoprotein Lipase–Deficient Mice by Adenovirus-Mediated Expression of Human Lipoprotein Lipase ⬇️

artículo científico publicado el 1 de noviembre de 1997

Correction of feline lipoprotein lipase deficiency with adeno-associated virus serotype 1-mediated gene transfer of the lipoprotein lipase S447X beneficial mutation

artículo científico publicado en 2006

Cortical thickness measured from MRI in the YAC128 mouse model of Huntington's disease

artículo científico publicado en 2008

Cross-species characterization of the ALS2 gene and analysis of its pattern of expression in development and adulthood

artículo científico publicado en 2005

Cystamine treatment is neuroprotective in the YAC128 mouse model of Huntington disease.

artículo científico publicado en 2005

DNA testing for Huntington disease results in a modification of risk and not diagnosis of disease

artículo científico publicado en 1990

De novo Huntington disease caused by 26-44 CAG repeat expansion on a low-risk haplotype

artículo científico publicado en 2013

Deficiency of ABCA1 impairs apolipoprotein E metabolism in brain

scientific journal article

Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome.

artículo científico publicado en 1985

Delineation of a 50 kilobase DNA segment containing the recombination site in a sporadic case of Huntington's disease

artículo científico publicado en 1992

Depletion of wild-type huntingtin in mouse models of neurologic diseases

artículo científico publicado en 2003

Deranged neuronal calcium signaling and Huntington disease.

artículo científico publicado en 2004

Design, Characterization, and Lead Selection of Therapeutic miRNAs Targeting Huntingtin for Development of Gene Therapy for Huntington's Disease.

artículo científico publicado en 2016

Despite antiatherogenic metabolic characteristics, SCD1-deficient mice have increased inflammation and atherosclerosis

artículo científico publicado en 2008

Developing a comprehensive, effective patient-friendly website to enhance decision making in predictive testing for Huntington disease

artículo científico publicado en 2012

Diagnosis of Huntington disease: a model for the stages of psychological response based on experience of a predictive testing program

artículo científico publicado en 1993

Diagnostic testing for vaccinomics: is the regulatory approval framework adequate? A comparison of Canada, the United States, and Europe

artículo científico publicado en 2011

Differential 3' polyadenylation of the Huntington disease gene results in two mRNA species with variable tissue expression

artículo científico publicado en 1993

Differential effect of the rs4149056 variant in SLCO1B1 on myopathy associated with simvastatin and atorvastatin.

artículo científico publicado en 2011

Differential modulation of endotoxin responsiveness by human caspase-12 polymorphisms

artículo científico publicado en 2004

Differential susceptibility to excitotoxic stress in YAC128 mouse models of Huntington disease between initiation and progression of disease

artículo científico publicado en 2009

Dilemmas of anonymous predictive testing for Huntington disease: privacy vs. optimal care

artículo científico publicado en 1997

Direct intracerebral delivery of a miR-33 antisense oligonucleotide into mouse brain increases brain ABCA1 expression. [Corrected].

artículo científico

Disruption of the endocytic protein HIP1 results in neurological deficits and decreased AMPA receptor trafficking

scientific journal article

Disturbed Ca2+ signaling and apoptosis of medium spiny neurons in Huntington's disease.

artículo científico publicado en 2005

Dopamine D2 receptor gene variants and response to rasagiline in early Parkinson's disease: a pharmacogenetic study

artículo científico publicado en 2016

Double-stranded RNA-dependent protein kinase, PKR, binds preferentially to Huntington's disease (HD) transcripts and is activated in HD tissue

artículo científico publicado en 2001

Dyslipidemias associated with heterozygous lipoprotein lipase mutations in the French-Canadian population ⬇️

artículo científico publicado el 1 de enero de 1998

Early Increase in Extrasynaptic NMDA Receptor Signaling and Expression Contributes to Phenotype Onset in Huntington's Disease Mice

Early increase in extrasynaptic NMDA receptor signaling and expression contributes to phenotype onset in Huntington's disease mice

artículo científico publicado en 2010

Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines.

artículo científico publicado en 2002

Early pridopidine treatment improves behavioral and transcriptional deficits in YAC128 Huntington disease mice.

artículo científico publicado en 2017

Economic impact of a genetic test for cisplatin-induced ototoxicity

artículo científico publicado en 2011

Effects of CAG repeat length, HTT protein length and protein context on cerebral metabolism measured using magnetic resonance spectroscopy in transgenic mouse models of Huntington's disease

artículo científico publicado en 2005

Efficient adenovirus-mediated ectopic gene expression of human lipoprotein lipase in human hepatic (HepG2) cells

artículo científico publicado en 1997

Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene

artículo científico publicado en 2003

Elevated brain 3-hydroxykynurenine and quinolinate levels in Huntington disease mice

scientific journal article

Elevated plasma triglyceride levels precede amyloid deposition in Alzheimer's disease mouse models with abundant A beta in plasma

artículo científico publicado en 2006

Engagement with genetic discrimination: concerns and experiences in the context of Huntington disease ⬇️

artículo científico publicado en 2007

Enhanced atherothrombotic formation after oxidative injury by FeCl3 to the common carotid artery in severe combined hyperlipidemic mice.

artículo científico publicado en 2009

Enhanced immune response to MMP3 stimulation in microglia expressing mutant huntingtin

artículo científico publicado en 2016

Enhanced striatal NR2B-containing N-methyl-D-aspartate receptor-mediated synaptic currents in a mouse model of Huntington disease

artículo científico publicado en 2004

Enhanced susceptibility to pancreatitis in severe hypertriglyceridaemic lipoprotein lipase-deficient mice and agonist-like function of pancreatic lipase in pancreatic cells.

artículo científico publicado en 2008

Epidemiology of Huntington disease

artículo científico publicado en 2017

Epiphyseal dysplasia, microcephaly, nystagmus, and retinitis pigmentosa

artículo científico publicado en 1989

Erratum: Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy

scholarly article published in Nature Genetics

Ethical issues in preclinical testing in Huntington disease: response to Margery Shaw's invited editorial comment

artículo científico publicado en 1987

Ethyl-EPA in Huntington disease: a double-blind, randomized, placebo-controlled trial

artículo científico publicado en 2005

Ethyl-EPA treatment improves motor dysfunction, but not neurodegeneration in the YAC128 mouse model of Huntington disease.

artículo científico publicado en 2005

Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16.

artículo científico publicado en 2004

Evidence for both the nucleus and cytoplasm as subcellular sites of pathogenesis in Huntington's disease in cell culture and in transgenic mice expressing mutant huntingtin.

artículo científico publicado en 1999

Evidence-based genetic counselling implications for Huntington disease intermediate allele predictive test results

artículo científico

Exclusion of DNA changes in the beta-subunit of the c-GMP phosphodiesterase gene as the cause for Huntington's disease

artículo científico publicado en 1992

Expanded polyglutamines in Caenorhabditis elegans cause axonal abnormalities and severe dysfunction of PLM mechanosensory neurons without cell death ⬇️

artículo científico publicado el 30 de octubre de 2001

Expression and functional analyses of novel mutations of ATP-binding cassette transporter-1 in Japanese patients with high-density lipoprotein deficiency

artículo científico publicado en 2002

Expression of LPL in Endothelial-Intact Artery Results in Lipid Deposition and Vascular Cell Adhesion Molecule-1 Upregulation in Both LPL and ApoE-Deficient Mice

artículo científico publicado en 2006

Expression of matrix metalloproteinase activity in idiopathic dilated cardiomyopathy: a marker of cardiac dilatation

artículo científico publicado en 2004

FASA-57 cDNA shares no homology with coding sequence of HD gene.

artículo científico publicado en 2005

Factors associated with experiences of genetic discrimination among individuals at risk for Huntington disease

artículo científico publicado en 2010

Familial aggregation of psychotic symptoms in Huntington's disease.

artículo científico publicado en 2000

Familial defective apolipoprotein B-100 in hypercholesterolemic Chinese Canadians: identification of a unique haplotype of the apolipoprotein B-100 allele

artículo científico publicado en 1997

Familial defective apolipoprotein B-100 is clinically indistinguishable from familial hypercholesterolemia

scientific article published on 01 October 1993

Familial influence on age of onset among siblings with Huntington disease

artículo científico publicado en 2001

Fatal hydrocodone overdose in a child: pharmacogenetics and drug interactions.

artículo científico publicado en 2010

Forskolin and dopamine D1 receptor activation increase huntingtin's association with endosomes in immortalized neuronal cells of striatal origin.

artículo científico publicado en 1999

Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range

artículo científico publicado en 2020

From mutation identification to therapy: discovery and origins of the first approved gene therapy in the Western world

artículo científico publicado en 2013

Full length mutant huntingtin is required for altered Ca2+ signaling and apoptosis of striatal neurons in the YAC mouse model of Huntington's disease.

artículo científico publicado en 2008

Full-length huntingtin levels modulate body weight by influencing insulin-like growth factor 1 expression

artículo científico publicado en 2010

Functional effects of the antigen glatiramer acetate are complex and tightly associated with its composition

artículo científico publicado en 2015

Further investigation of the role of ACYP2 and WFS1 pharmacogenomic variants in the development of cisplatin-induced ototoxicity in testicular cancer patients

artículo científico publicado en 2018

Gender differences in expression of the human caspase-12 long variant determines susceptibility to Listeria monocytogenes infection

artículo científico publicado en 2009

Gene expression studies of a human monocyte cell line identify dissimilarities between differently manufactured glatiramoids

artículo científico publicado en 2015

Gene structure and map location of the murine homolog of the Huntington-associated protein, Hap1.

artículo científico publicado en 1998

Gene therapy for lipoprotein lipase deficiency: working toward clinical application

artículo científico publicado en 2005

Genetic ablation of Cyp8b1 preserves host metabolic function by repressing steatohepatitis and altering gut microbiota composition.

artículo científico publicado en 2017

Genetic aspects of Huntington's chorea: results of a national survey

artículo científico publicado en 1982

Genetic diversity of variants involved in drug response and metabolism in Sri Lankan populations: implications for clinical implementation of pharmacogenomics

artículo científico publicado en 2016

Genetic testing and Huntington's disease: issues of employment

artículo científico publicado en 2004

Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy

artículo científico publicado en 2009

Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study

artículo científico publicado en 2006

Genomic organization of the human alpha-adducin gene and its alternately spliced isoforms

artículo científico publicado en 1995

Genotypic approaches to therapy in children: a national active surveillance network (GATC) to study the pharmacogenomics of severe adverse drug reactions in children.

artículo científico publicado en 2007

Glucose intolerance and decreased early insulin response in mice with severe hypertriglyceridemia

artículo científico publicado en 2010

HACE1 is essential for astrocyte mitochondrial function and influences Huntington disease phenotypes in vivo.

artículo científico publicado en 2017

HACE1 reduces oxidative stress and mutant Huntingtin toxicity by promoting the NRF2 response.

artículo científico publicado en 2014

HAP1 facilitates effects of mutant huntingtin on inositol 1,4,5-trisphosphate-induced Ca release in primary culture of striatal medium spiny neurons

scientific journal article

HD iPSC-derived neural progenitors accumulate in culture and are susceptible to BDNF withdrawal due to glutamate toxicity

artículo científico publicado en 2015

HDL and LDL cholesterol significantly influence beta-cell function in type 2 diabetes mellitus.

artículo científico publicado en 2010

HDL deficiency and atherosclerosis: lessons from Tangier disease

artículo científico publicado en 2004

HIP1 and HIP12 display differential binding to F-actin, AP2, and clathrin. Identification of a novel interaction with clathrin light chain

artículo científico publicado en 2002

HIP14, a novel ankyrin domain-containing protein, links huntingtin to intracellular trafficking and endocytosis

artículo científico publicado en 2002

HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia

artículo científico publicado en 2011

Hemorheological abnormalities in lipoprotein lipase deficient mice with severe hypertriglyceridemia

artículo científico publicado en 2006

Hepatic ABCA1 expression improves β-cell function and glucose tolerance

artículo científico publicado en 2014

Hepatic ATP-Binding Cassette Transporter A1 Is a Key Molecule in High-Density Lipoprotein Cholesteryl Ester Metabolism in Mice

article

Heterozygosity for ABCA1 gene mutations: effects on enzymes, apolipoproteins and lipoprotein particle size

artículo científico publicado en 2003

High density lipoprotein metabolism in low density lipoprotein receptor-deficient mice

artículo científico publicado en 2014

High frequency of intermediate alleles on Huntington disease-associated haplotypes in British Columbia's general population

artículo científico publicado en 2013

Hip14l-deficient mice develop neuropathological and behavioural features of Huntington disease.

artículo científico publicado en 2012

Hippi is essential for node cilia assembly and Sonic hedgehog signaling

scientific journal article

Histone Deacetylase Inhibitors Protect Against Pyruvate Dehydrogenase Dysfunction in Huntington's Disease.

artículo científico publicado en 2017

Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course

artículo científico publicado en 2003

Homozygosity for a mutation in the lipoprotein lipase gene (Gly139?Ser) causes chylomicronaemia in a boy of Spanish descent

article

Human ABCA1 BAC transgenic mice show increased high density lipoprotein cholesterol and ApoAI-dependent efflux stimulated by an internal promoter containing liver X receptor response elements in intron 1.

artículo científico publicado en 2001

Human Mendelian pain disorders: a key to discovery and validation of novel analgesics.

artículo científico publicado en 2012

Human huntingtin derived from YAC transgenes compensates for loss of murine huntingtin by rescue of the embryonic lethal phenotype

artículo científico publicado en 1996

Human huntingtin-associated protein (HAP-1) gene: genomic organisation and an intragenic polymorphism

artículo científico publicado en 2000

Hunting human disease genes: lessons from the past, challenges for the future.

artículo científico publicado en 2013

Huntingtin and huntingtin-associated protein 1 influence neuronal calcium signaling mediated by inositol-(1,4,5) triphosphate receptor type 1

artículo científico publicado en 2003

Huntingtin associates with acidic phospholipids at the plasma membrane

artículo científico publicado en 2005

Huntingtin bodies sequester vesicle-associated proteins by a polyproline-dependent interaction.

artículo científico publicado en 2004

Huntingtin inhibits caspase-3 activation

scientific journal article

Huntingtin interacting protein 1 (HIP1) regulates clathrin assembly through direct binding to the regulatory region of the clathrin light chain

artículo científico publicado en 2005

Huntingtin interacting protein 1 induces apoptosis via a novel caspase-dependent death effector domain

artículo científico publicado en 2000

Huntingtin interacting proteins 14 and 14-like are required for chorioallantoic fusion during early placental development.

artículo científico publicado en 2014

Huntingtin interacts with REST/NRSF to modulate the transcription of NRSE-controlled neuronal genes

artículo científico publicado en 2003

Huntingtin is required for normal hematopoiesis

artículo científico publicado en 2000

Huntingtin phosphorylation on serine 421 is significantly reduced in the striatum and by polyglutamine expansion in vivo

artículo científico publicado en 2005

Huntingtin proteolysis in Huntington disease

Huntingtin suppression restores cognitive function in a mouse model of Huntington's disease

article

Huntingtin-interacting protein 1 influences worm and mouse presynaptic function and protects Caenorhabditis elegans neurons against mutant polyglutamine toxicity.

artículo científico publicado en 2007

Huntingtin-interacting protein HIP14 is a palmitoyl transferase involved in palmitoylation and trafficking of multiple neuronal proteins

artículo científico publicado en 2004

Huntington Disease

artículo científico publicado en 2018

Huntington disease

Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes

artículo científico publicado en 2013

Huntington disease reduced penetrance alleles occur at high frequency in the general population

artículo científico publicado en 2016

Huntington's Disease-like 2 (HDL2) in North America and Japan

artículo científico publicado en 2004

IKK phosphorylates Huntingtin and targets it for degradation by the proteasome and lysosome.

artículo científico publicado en 2009

Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of the WHAM chicken.

artículo científico publicado en 2002

Identification of a novel caspase cleavage site in huntingtin that regulates mutant huntingtin clearance

scientific article published on 13 November 2018

Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates

artículo científico publicado en 2004

Identification of a post-translationally myristoylated autophagy-inducing domain released by caspase cleavage of huntingtin.

artículo científico publicado en 2014

Identification of binding sites in Huntingtin for the Huntingtin Interacting Proteins HIP14 and HIP14L

artículo científico publicado en 2014

Identification of multiple CpG islands and associated conserved sequences in a candidate region for the Huntington disease gene

artículo científico publicado en 1991

Ile225Thr loop mutation in thelipoprotein lipase (LPL) gene is a de novo event

article

Impaired prolactin release in Huntington's chorea. Evidence for dopaminergic excess ⬇️

artículo científico publicado el 27 de agosto de 1977

Impairment and Restoration of Homeostatic Plasticity in Cultured Cortical Neurons From a Mouse Model of Huntington Disease

scientific article published on 16 May 2019

In search of a genetic explanation for LDLc variability in an FH family: common SNPs and a rare mutation in MTTP explain only part of LDL variability in an FH family

scientific article published on 06 August 2019

In their own words: reports of stigma and genetic discrimination by people at risk for Huntington disease in the International RESPOND-HD study

artículo científico publicado en 2010

In vitro evidence for both the nucleus and cytoplasm as subcellular sites of pathogenesis in Huntington's disease.

artículo científico publicado en 1999

Increased ABCA1 activity protects against atherosclerosis

Increased ABCA1 activity protects against atherosclerosis.

artículo científico publicado en 2002

Increased huntingtin protein length reduces the number of polyglutamine-induced gene expression changes in mouse models of Huntington's disease

artículo científico publicado en 2002

Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population

artículo científico publicado en 1995

Increased risk of coronary artery disease in Caucasians with extremely low HDL cholesterol due to mutations in ABCA1, APOA1, and LCAT.

artículo científico publicado en 2011

Increased sensitivity to N-methyl-D-aspartate receptor-mediated excitotoxicity in a mouse model of Huntington's disease

artículo científico publicado en 2002

Inhibiting caspase cleavage of huntingtin reduces toxicity and aggregate formation in neuronal and nonneuronal cells

artículo científico publicado en 2000

Inhibition of Excessive Monoamine Oxidase A/B Activity Protects Against Stress-induced Neuronal Death in Huntington Disease.

artículo científico publicado en 2014

Inhibition of calpain cleavage of huntingtin reduces toxicity: accumulation of calpain/caspase fragments in the nucleus

scientific journal article

Insufficient evidence to invoke defects in or around the A-I gene as the cause for familial hypoalphahpoproteinemia

article

Insulin and IGF-1 regularize energy metabolites in neural cells expressing full-length mutant huntingtin.

artículo científico publicado en 2016

Insurance and the presymptomatic diagnosis of delayed-onset disease

artículo científico publicado en 1989

Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease

artículo científico publicado en 2003

Interaction of postsynaptic density protein-95 with NMDA receptors influences excitotoxicity in the yeast artificial chromosome mouse model of Huntington's disease.

artículo científico publicado en 2009

Interactome network analysis identifies multiple caspase-6 interactors involved in the pathogenesis of HD.

artículo científico publicado en 2016

Interleukin-1α-converting enzyme (ICE) and related cell death genes ICErel-II and ICErel-III map to the same PAC clone at band 11q22.2-22.3

article

Intestinal ABCA1 directly contributes to HDL biogenesis in vivo

artículo científico publicado en 2006

Intrachromosomal location of the telomeric repeat (TTAGGG)n

artículo científico publicado en 1991

Intramuscular administration of AAV1-lipoprotein lipase S447X lowers triglycerides in lipoprotein lipase-deficient patients

artículo científico publicado en 2008

Intrinsic cleavage of receptor-interacting protein kinase-1 by caspase-6.

artículo científico publicado en 2012

Intrinsic mutant HTT-mediated defects in oligodendroglia cause myelination deficits and behavioral abnormalities in Huntington disease

scientific article published on 23 April 2019

Is tetrabenazine safe and effective for suppressing chorea in Huntington's disease?

scientific article published on 01 October 2006

Islet cholesterol accumulation due to loss of ABCA1 leads to impaired exocytosis of insulin granules

artículo científico publicado en 2011

Kennedy's disease: caspase cleavage of the androgen receptor is a crucial event in cytotoxicity

artículo científico publicado en 1999

Laquinimod Treatment Improves Myelination Deficits at the Transcriptional and Ultrastructural Levels in the YAC128 Mouse Model of Huntington Disease

scientific article published on 17 October 2018

Laquinimod arrests experimental autoimmune encephalomyelitis by activating the aryl hydrocarbon receptor

artículo científico publicado en 2016

Laquinimod dampens hyperactive cytokine production in Huntington's disease patient myeloid cells

artículo científico publicado en 2016

Laquinimod decreases Bax expression and reduces caspase-6 activation in neurons

artículo científico publicado en 2016

Laquinimod rescues striatal, cortical and white matter pathology and results in modest behavioural improvements in the YAC128 model of Huntington disease.

artículo científico publicado en 2016

Laquinimod treatment in the R6/2 mouse model

artículo científico publicado en 2017

Large-scale transcriptomic analysis reveals that pridopidine reverses aberrant gene expression and activates neuroprotective pathways in the YAC128 HD mouse.

artículo científico publicado en 2018

Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease

artículo científico publicado en 2019

Length of huntingtin and its polyglutamine tract influences localization and frequency of intracellular aggregates

artículo científico publicado en 1998

Lessons from predictive testing for Huntington disease: 25 years on.

artículo científico publicado en 2011

Levels of mutant huntingtin influence the phenotypic severity of Huntington disease in YAC128 mouse models

artículo científico publicado en 2005

Life without huntingtin: normal differentiation into functional neurons

scientific journal article

Lipoprotein lipase S447X: a naturally occurring gain-of-function mutation

artículo científico publicado en 2006

Localization of the cell death genes CPP32 and Mch-2 to human Chromosome 4q

article

Long-term lentiviral-mediated expression of ciliary neurotrophic factor in the striatum of Huntington's disease transgenic mice

artículo científico publicado en 2004

Loss of both ABCA1 and ABCG1 results in increased disturbances in islet sterol homeostasis, inflammation, and impaired β-cell function

artículo científico publicado en 2012

Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease

artículo científico publicado en 2001

Loss of wild-type huntingtin influences motor dysfunction and survival in the YAC128 mouse model of Huntington disease

artículo científico publicado en 2005

Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations

artículo científico publicado en 2007

Low levels of human HIP14 are sufficient to rescue neuropathological, behavioural, and enzymatic defects due to loss of murine HIP14 in Hip14-/- mice

artículo científico publicado en 2012

Macrophage ATP-binding cassette transporter A1 overexpression inhibits atherosclerotic lesion progression in low-density lipoprotein receptor knockout mice

artículo científico publicado en 2006

Magnetic resonance spectroscopy biomarkers in premanifest and early Huntington disease.

artículo científico publicado en 2010

Managing genetic discrimination: strategies used by individuals found to have the Huntington disease mutation

artículo científico publicado en 2007

Many roads lead to atheroma

artículo científico publicado en 1995

Mapping of the epitope on lipoprotein lipase recognized by a monoclonal antibody (5D2) which inhibits lipase activity

article

Mapping of the gonadotropin-releasing hormone (GnRH) receptor gene to human chromosome 4q21.2 by fluorescence in situ hybridization.

artículo científico publicado en 1995

Marked differences in neurochemistry and aggregates despite similar behavioural and neuropathological features of Huntington disease in the full-length BACHD and YAC128 mice

artículo científico publicado en 2012

Maternal expression of functional lipoprotein lipase and effects on body fat mass and body condition scores of mature cats with lipoprotein lipase deficiency.

artículo científico publicado en 2001

Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases.

artículo científico publicado en 2001

Memory and synaptic deficits in Hip14/DHHC17 knockout mice.

artículo científico publicado en 2013

Mice lacking caspase-2 are protected from behavioral changes, but not pathology, in the YAC128 model of Huntington disease.

artículo científico publicado en 2011

Michael Smith (1932-2000).

artículo científico publicado en 2000

Mismatch PCR: a rapid method to screen for the Pro207-->Leu mutation in the lipoprotein lipase (LPL) gene

artículo científico publicado el 1 de octubre de 1992

Mitochondrial sensitivity and altered calcium handling underlie enhanced NMDA-induced apoptosis in YAC128 model of Huntington's disease.

artículo científico publicado en 2007

Mitochondrial-dependent Ca2+ handling in Huntington's disease striatal cells: effect of histone deacetylase inhibitors.

artículo científico publicado en 2006

Modeling Doxorubicin-Induced Cardiotoxicity in Human Pluripotent Stem Cell Derived-Cardiomyocytes

artículo científico publicado en 2016

Molecular Genetic Approaches to the Study of the Nervous System pp. 189–201 ⬇️

artículo científico publicado el 1 de enero de 1983

Molecular genetics of human lipoprotein lipase deficiency

artículo científico publicado el 18 de agosto de 1992

Monoamines and their metabolites in Huntington's disease brain: evidence for decreased catechol-O-methyltransferase activity

artículo científico publicado en 1993

More codeine fatalities after tonsillectomy in North American children

artículo científico publicado en 2012

Mouse models of Huntington disease: variations on a theme.

artículo científico publicado en 2009

Multisource ascertainment of Huntington disease in Canada: prevalence and population at risk

artículo científico publicado en 2013

Murine alpha-L-iduronidase: cDNA isolation and expression.

artículo científico publicado en 1994

Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract

artículo científico publicado en 2002

Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy

artículo científico publicado en 2002

Mutant huntingtin N-terminal fragments of specific size mediate aggregation and toxicity in neuronal cells

artículo científico publicado en 2009

Mutant huntingtin binds the mitochondrial fission GTPase dynamin-related protein-1 and increases its enzymatic activity

artículo científico publicado en 2011

Mutant huntingtin enhances excitotoxic cell death.

artículo científico publicado en 2001

Mutant huntingtin impairs axonal trafficking in mammalian neurons in vivo and in vitro

artículo científico publicado en 2004

Mutant huntingtin is cleared from the brain via active mechanisms in Huntington disease

scientific article published on 10 December 2020

Mutant huntingtin's effects on striatal gene expression in mice recapitulate changes observed in human Huntington's disease brain and do not differ with mutant huntingtin length or wild-type huntingtin dosage

artículo científico publicado en 2007

Mutant huntingtin: nuclear translocation and cytotoxicity mediated by GAPDH

artículo científico publicado en 2006

Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia

artículo científico publicado en 2009

Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis

artículo científico publicado en 2003

Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis

artículo científico publicado en 2003

Mutations in the ABC 1 gene in familial HDL deficiency with defective cholesterol efflux

scientific article published in The Lancet

Mycophenolate mofetil and atherosclerosis: results of animal and human studies.

artículo científico publicado en 2007

Mycophenolate mofetil attenuates plaque inflammation in patients with symptomatic carotid artery stenosis

artículo científico publicado en 2010

N-terminal proteolysis of full-length mutant huntingtin in an inducible PC12 cell model of Huntington's disease

artículo científico publicado en 2007

NMDA receptor function and NMDA receptor-dependent phosphorylation of huntingtin is altered by the endocytic protein HIP1

scientific journal article

NMDA receptor function in mouse models of Huntington disease

artículo científico publicado en 2001

NP03, a novel low-dose lithium formulation, is neuroprotective in the YAC128 mouse model of Huntington disease

artículo científico publicado en 2012

Natural history of disease in the YAC128 mouse reveals a discrete signature of pathology in Huntington disease

artículo científico publicado en 2011

Neurodegeneration: Role of repeats in protein clearance.

artículo científico publicado en 2017

Neuronal palmitoyl acyl transferases exhibit distinct substrate specificity

artículo científico publicado en 2009

New insights into the clinical features, pathogenesis and molecular genetics of Huntington disease

artículo científico publicado el 1 de octubre de 1992

Nonrandom association between Huntington disease and two loci separated by about 3 Mb on 4p16.3.

artículo científico publicado en 1992

Novel mutations in scavenger receptor BI associated with high HDL cholesterol in humans

artículo científico publicado en 2011

Nuclear localization of a non-caspase truncation product of atrophin-1, with an expanded polyglutamine repeat, increases cellular toxicity

scientific journal article

Onset and pre-onset studies to define the Huntington's disease natural history.

artículo científico publicado en 2001

Origins and evolution of Huntington disease chromosomes

artículo científico publicado en 1995

Palmitoylation and function of glial glutamate transporter-1 is reduced in the YAC128 mouse model of Huntington disease

artículo científico publicado en 2010

Palmitoylation of ATP-binding cassette transporter A1 is essential for its trafficking and function.

artículo científico publicado en 2009

Palmitoylation of caspase-6 by HIP14 regulates its activation

artículo científico publicado en 2016

Palmitoylation of huntingtin by HIP14 is essential for its trafficking and function

artículo científico publicado en 2006

Pathological association and dissociation of functional systems in multiple sclerosis and Huntington's disease

artículo científico publicado en 1997

Patients With ApoE3 Deficiency (E2/2, E3/2, and E4/2) Who Manifest With Hyperlipidemia Have Increased Frequency of an Asn 291→Ser Mutation in the Human LPL Gene ⬇️

artículo científico publicado el 1 de octubre de 1995

Patients' rights to laboratory data: trinucleotide repeat length in Huntington disease

artículo científico publicado en 1996

Perception, experience, and response to genetic discrimination in Huntington disease: the international RESPOND-HD study

artículo científico publicado en 2010

Perceptions of discrimination among persons who have undergone predictive testing for Huntington's disease

artículo científico publicado en 2008

Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey

scientific article published on 09 June 2009

Personalized gene silencing therapeutics for Huntington disease.

artículo científico publicado en 2014

Pharmacogenetics of neonatal opioid toxicity following maternal use of codeine during breastfeeding: a case-control study

artículo científico publicado en 2008

Pharmacogenomic Prediction of Anthracycline-Induced Cardiotoxicity in Children

Pharmacogenomic screening for anthracycline-induced cardiotoxicity in childhood cancer.

artículo científico publicado en 2017

Pharmacogenomics and active surveillance for serious adverse drug reactions in children.

artículo científico publicado en 2010

Pharmacogenomics and its implications for autoimmune disease

scientific article published on 01 March 2007

Pharmacogenomics of Vincristine-Induced Peripheral Neuropathy Implicates Pharmacokinetic and Inherited Neuropathy Genes.

artículo científico publicado en 2018

Pharmacogenomics strategies to optimize treatments for multiple sclerosis: Insights from clinical research

artículo científico publicado en 2016

Phenotypic abnormalities in the YAC128 mouse model of Huntington disease are penetrant on multiple genetic backgrounds and modulated by strain

artículo científico publicado en 2006

Phosphorylation of huntingtin at Ser421 in YAC128 neurons is associated with protection of YAC128 neurons from NMDA-mediated excitotoxicity and is modulated by PP1 and PP2A.

artículo científico publicado en 2010

Phosphorylation of huntingtin reduces the accumulation of its nuclear fragments

artículo científico publicado en 2008

Physicochemical, biological, functional and toxicological characterization of the European follow-on glatiramer acetate product as compared with Copaxone.

artículo científico publicado en 2018

Physiologically regulated transgenic ABCA1 does not reduce amyloid burden or amyloid-beta peptide levels in vivo.

artículo científico publicado en 2007

Plasma apolipoprotein AV levels in mice are positively associated with plasma triglyceride levels.

artículo científico publicado en 2009

Polyglutamine-modulated striatal calpain activity in YAC transgenic huntington disease mouse model: impact on NMDA receptor function and toxicity

artículo científico publicado en 2008

Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset

artículo científico publicado en 2012

Postpartum Maternal Codeine Therapy and the Risk of Adverse Neonatal Outcomes

artículo científico publicado en 2012

Potent and selective antisense oligonucleotides targeting single-nucleotide polymorphisms in the Huntington disease gene / allele-specific silencing of mutant huntingtin

artículo científico publicado en 2011

Potentiation of NMDA receptor-mediated excitotoxicity linked with intrinsic apoptotic pathway in YAC transgenic mouse model of Huntington's disease

artículo científico publicado en 2004

Precise mapping of the brain alpha 2-adrenergic receptor gene within chromosome 4p16.

artículo científico publicado en 1994

Preclinical testing in Huntington disease

artículo científico publicado en 1987

Prediction of codeine toxicity in infants and their mothers using a novel combination of maternal genetic markers.

artículo científico publicado en 2012

Predictive testing for Huntington disease

artículo científico publicado en 1992

Predictive testing for Huntington disease in Canada: the experience of those receiving an increased risk

artículo científico publicado en 1992

Predictive testing for Huntington disease: I. Description of a pilot project in British Columbia

artículo científico publicado en 1989

Predictive testing for Huntington disease: II. Demographic characteristics, life-style patterns, attitudes, and psychosocial assessments of the first fifty-one test candidates

artículo científico publicado en 1989

Predictive testing for Huntington disease: are we ready for widespread community implementation?

artículo científico publicado en 1991

Predictive testing for Huntington disease: interpretation and significance of intermediate alleles.

artículo científico publicado en 2006

Predictive testing for Huntington's disease: a universal model?

artículo científico publicado en 2003

Predictive testing for Huntington's disease: the calm after the storm

artículo científico publicado en 2000

Predictive testing for persons at risk for homozygosity for CAG expansion in the Huntington disease gene.

artículo científico publicado en 2003

Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000.

artículo científico publicado en 2003

Preface

Premature Atherosclerosis in Patients with Familial Chylomicronemia Caused by Mutations in the Lipoprotein Lipase Gene

article

Prenatal diagnosis of asplenia/polysplenia syndrome ⬇️

artículo científico publicado el 1 de mayo de 1988

Preparing for preventive clinical trials: the Predict-HD study

artículo científico publicado en 2006

Presynaptic defects underlying impaired learning and memory function in lipoprotein lipase-deficient mice.

artículo científico publicado en 2009

Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Québec

artículo científico publicado el 1 de abril de 1992

Preventing mutant huntingtin proteolysis and intermittent fasting promote autophagy in models of Huntington disease

artículo científico publicado en 2018

Prevention of depressive behaviour in the YAC128 mouse model of Huntington disease by mutation at residue 586 of huntingtin

artículo científico publicado en 2009

Prevention of raised low-density lipoprotein cholesterol in a patient with familial hypercholesterolaemia and lipoprotein lipase deficiency

artículo científico publicado en 1993

Pridopidine Induces Functional Neurorestoration Via the Sigma-1 Receptor in a Mouse Model of Parkinson's Disease

scientific article published on 01 April 2019

Pridopidine activates neuroprotective pathways impaired in Huntington Disease

artículo científico publicado en 2016

Pridopidine protects neurons from mutant-huntingtin toxicity via the sigma-1 receptor

artículo científico publicado en 2019

Pridopidine stabilizes mushroom spines in mouse models of Alzheimer's disease by acting on the sigma-1 receptor

artículo científico publicado en 2018

Pridopidine, a clinic-ready compound, reduces 3,4-dihydroxyphenylalanine-induced dyskinesia in Parkinsonian macaques

artículo científico publicado en 2018

Protective up-regulation of CK2 by mutant huntingtin in cells co-expressing NMDA receptors

artículo científico publicado en 2007

Protein kinase A site-specific phosphorylation regulates ATP-binding cassette A1 (ABCA1)-mediated phospholipid efflux.

artículo científico publicado en 2002

Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington's disease.

artículo científico publicado en 2003

Putting proteins in their place: palmitoylation in Huntington disease and other neuropsychiatric diseases.

artículo científico publicado en 2011

Rational design of antisense oligonucleotides targeting single nucleotide polymorphisms for potent and allele selective suppression of mutant Huntingtin in the CNS.

artículo científico publicado en 2013

Re: Autopsy-proven Huntington's disease with 29 trinucleotide repeats

artículo científico publicado en 2008

Recommendations for genetic testing to reduce the incidence of anthracycline-induced cardiotoxicity

artículo científico publicado en 2016

Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi

artículo científico publicado en 2002

Regulation of ABCA1 protein expression and function in hepatic and pancreatic islet cells by miR-145.

artículo científico publicado en 2013

Rescue from excitotoxicity and axonal degeneration accompanied by age-dependent behavioral and neuroanatomical alterations in caspase-6-deficient mice

artículo científico publicado en 2012

Response to "evaluation of pharmacogenetic markers to predict the risk of Cisplatin-induced ototoxicity".

artículo científico publicado en 2014

Response to Falush: a role for cis-element polymorphisms in HD.

artículo científico publicado en 2009

Response to the Letter-to-the Editor by Cohen et al. concerning our eNeurologicalSci article, Melamed-Gal, et al. Physicochemical, biological, functional and toxicological characterization of the European follow-on glatiramer acetate product as compa

Restoration of endothelial function by increasing high-density lipoprotein in subjects with isolated low high-density lipoprotein

artículo científico publicado en 2003

Restrictive dermopathy: a newly recognized autosomal recessive skin dysplasia

artículo científico publicado en 1986

Rethinking genotype and phenotype correlations in polyglutamine expansion disorders

artículo científico publicado en 1997

Retroviral-mediated gene transfer and expression of human lipoprotein lipase in somatic cells

artículo científico publicado en 1995

Risk reversals in predictive testing for Huntington disease.

artículo científico publicado en 1997

Role of NR2B-type NMDA receptors in selective neurodegeneration in Huntington disease

artículo científico publicado en 2003

Role of TPMT and COMT genetic variation in cisplatin-induced ototoxicity.

artículo científico publicado en 2013

Safety and efficacy of pridopidine in patients with Huntington's disease (PRIDE-HD): a phase 2, randomised, placebo-controlled, multicentre, dose-ranging study

scientific article published on 15 December 2018

Selective degeneration and nuclear localization of mutant huntingtin in the YAC128 mouse model of Huntington disease

artículo científico publicado en 2005

Selective degeneration in YAC mouse models of Huntington disease

artículo científico publicado en 2006

Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease

artículo científico publicado en 2003

Silent periods, long-latency reflexes and cortical MEPs in Huntington's disease and at-risk relatives

artículo científico publicado en 1989

Small changes, big impact: posttranslational modifications and function of huntingtin in Huntington disease.

scientific article published on 10 February 2011

Small molecule splicing modifiers with systemic HTT-lowering activity

artículo científico publicado en 2021

South African founder mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia in the Dutch population

article

Specific caspase interactions and amplification are involved in selective neuronal vulnerability in Huntington's disease

artículo científico publicado en 2004

Specific loss of brain ABCA1 increases brain cholesterol uptake and influences neuronal structure and function

artículo científico publicado en 2009

Specific mutations in ABCA1 have discrete effects on ABCA1 function and lipid phenotypes both in vivo and in vitro

artículo científico publicado en 2006

Spontaneous atherosclerosis in aged lipoprotein lipase-deficient mice with severe hypertriglyceridemia on a normal chow diet

artículo científico publicado en 2007

Striatal neurochemical changes in transgenic models of Huntington's disease

artículo científico publicado en 2002

Striatal neuronal apoptosis is preferentially enhanced by NMDA receptor activation in YAC transgenic mouse model of Huntington disease

artículo científico publicado en 2005

Striatal synaptic dysfunction and hippocampal plasticity deficits in the Hu97/18 mouse model of Huntington disease

artículo científico publicado en 2014

Structural abnormalities in spermatids together with reduced sperm counts and motility underlie the reproductive defect in HIP1−/− mice

scientific article published on 01 March 2007

Structural analysis of the 5' region of mouse and human Huntington disease genes reveals conservation of putative promoter region and di- and trinucleotide polymorphisms

artículo científico publicado en 1995

Structural and molecular myelination deficits occur prior to neuronal loss in the YAC128 and BACHD models of Huntington disease

artículo científico publicado en 2016

Subtype-specific enhancement of NMDA receptor currents by mutant huntingtin

artículo científico publicado en 1999

Sudden death due to paralysis and synaptic and behavioral deficits when Hip14/Zdhhc17 is deleted in adult mice.

artículo científico publicado en 2016

Summary of the 1993 ASHG ancillary meeting "recent research on chromosome 4p syndromes and genes".

artículo científico publicado en 1995

Suppressing aberrant GluN3A expression rescues synaptic and behavioral impairments in Huntington's disease models

artículo científico publicado en 2013

Systematic interaction network filtering identifies CRMP1 as a novel suppressor of huntingtin misfolding and neurotoxicity

artículo científico publicado en 2015

TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease

artículo científico publicado en 2012

Targeted deletion of hepatocyte ABCA1 leads to very low density lipoprotein triglyceride overproduction and low density lipoprotein hypercatabolism

artículo científico publicado en 2010

Targeted disruption of Huntingtin-associated protein-1 (Hap1) results in postnatal death due to depressed feeding behavior

artículo científico publicado en 2002

Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes

artículo científico publicado en 1995

Targeted inactivation of hepatic Abca1 causes profound hypoalphalipoproteinemia and kidney hypercatabolism of apoA-I

artículo científico publicado en 2005

Targeted inactivation of hepatic Abca1 causes profound hypoalphalipoproteinemia and kidney hypercatabolism of apoA-I

article

Targeting the Sigma-1 Receptor via Pridopidine Ameliorates Central Features of ALS Pathology in a SOD1 Model

artículo científico publicado en 2019

Testicular degeneration in Huntington disease.

artículo científico publicado en 2007

Tetrabenazine

artículo científico publicado en 2009

The "flap" endonuclease gene FEN1 is excluded as a candidate gene implicated in the CAG repeat expansion underlying Huntington disease

artículo científico publicado en 2001

The ATP-binding cassette transporter 1 mediates lipid efflux from Sertoli cells and influences male fertility.

artículo científico publicado en 2004

The Asn9 variant of lipoprotein lipase is associated with the -93G promoter mutation and an increased risk of coronary artery disease

article

The Canadian Pharmacogenomics Network for Drug Safety: a model for safety pharmacology

artículo científico publicado en 2010

The Gln-Ala repeat transcriptional activator CA150 interacts with huntingtin: neuropathologic and genetic evidence for a role in Huntington's disease pathogenesis

artículo científico publicado en 2001

The Impact of Partial and Complete Loss-of-Function Mutations in Endothelial Lipase on High-Density Lipoprotein Levels and Functionality in Humans

article

The LPL S447X cSNP is associated with decreased blood pressure and plasma triglycerides, and reduced risk of coronary artery disease

artículo científico publicado en 2001

The Sigma-1 Receptor Mediates Pridopidine Rescue of Mitochondrial Function in Huntington Disease Models

artículo científico publicado en 2021

The absence of ABCA1 decreases soluble ApoE levels but does not diminish amyloid deposition in two murine models of Alzheimer disease.

artículo científico publicado en 2005

The dynamics of macrophage infiltration into the arterial wall during atherosclerotic lesion development in low-density lipoprotein receptor knockout mice

artículo científico publicado en 2010

The emerging era of pharmacogenomics: current successes, future potential, and challenges

artículo científico publicado en 2014

The factor structure for positive and negative symptoms in South African Xhosa patients with schizophrenia

artículo científico publicado en 2001

The fatal attraction of polyglutamine‐containing proteins ⬇️

artículo científico publicado el 1 de abril de 1998

The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings

artículo científico publicado en 2003

The global spectrum of protein-coding pharmacogenomic diversity.

artículo científico publicado en 2016

The high frequency of juvenile Huntington's chorea in South Africa ⬇️

artículo científico publicado el 1 de abril de 1982

The human beta-subunit of rod photoreceptor cGMP phosphodiesterase: complete retinal cDNA sequence and evidence for expression in brain

artículo científico publicado el 1 de julio de 1992

The influence of huntingtin protein size on nuclear localization and cellular toxicity.

artículo científico publicado en 1998

The lipoprotein lipase Gly188----Glu mutation in South Africans of Indian descent: evidence suggesting common origins and an increased frequency ⬇️

artículo científico publicado el 1 de febrero de 1992

The metabolic phenotype of SCD1-deficient mice is independent of melanin-concentrating hormone

artículo científico publicado en 2009

The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population

artículo científico publicado en 2018

The murine homologues of the Huntington disease gene (Hdh) and the alpha-adducin gene (Add1) map to mouse chromosome 5 within a region of conserved synteny with human chromosome 4p16.3

artículo científico publicado en 1994

The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease

artículo científico publicado en 2014

The prediction of exons through an analysis of spliceable open reading frames

artículo científico publicado en 1992

The psychological consequences of predictive testing for Huntington's disease. Canadian Collaborative Study of Predictive Testing

artículo científico publicado en 1992

The role of free fatty acids, pancreatic lipase and Ca+ signalling in injury of isolated acinar cells and pancreatitis model in lipoprotein lipase-deficient mice

artículo científico publicado en 2008

The role of the ABCA1 transporter and cholesterol efflux in familial hypoalphalipoproteinemia

artículo científico publicado en 2003

The sigma-1 receptor mediates the beneficial effects of pridopidine in a mouse model of Huntington disease

artículo científico publicado en 2016

The targetable A1 Huntington disease haplotype has distinct Amerindian and European origins in Latin America.

artículo científico publicado en 2016

Therapeutic approaches to Huntington disease: from the bench to the clinic

scientific article published on 21 September 2018

Therapeutic modulation of the bile acid pool by Cyp8b1 knockdown protects against nonalcoholic fatty liver disease in mice.

artículo científico publicado en 2018

Tissue-specific induction of intestinal ABCA1 expression with a liver X receptor agonist raises plasma HDL cholesterol levels

artículo científico publicado en 2006

Tissue-specific roles of ABCA1 influence susceptibility to atherosclerosis.

artículo científico publicado en 2009

To be or not to be toxic: aggregations in Huntington and Alzheimer disease

artículo científico publicado en 2006

Toward understanding the molecular pathology of Huntington's disease.

artículo científico publicado en 1997

Tracking brain palmitoylation change: predominance of glial change in a mouse model of Huntington's disease

artículo científico publicado en 2013

Transcriptional changes in Huntington disease identified using genome-wide expression profiling and cross-platform analysis

artículo científico publicado en 2010

Transgenic mouse model expressing the caspase 6 fragment of mutant huntingtin

artículo científico publicado en 2012

Treatment of Nav1.7-mediated pain in inherited erythromelalgia using a novel sodium channel blocker ⬇️

artículo científico publicado el 28 de octubre de 2011

Treatment of YAC128 mice and their wild-type littermates with cystamine does not lead to its accumulation in plasma or brain: implications for the treatment of Huntington disease

artículo científico publicado en 2005

Treatment with the MAO-A inhibitor clorgyline elevates monoamine neurotransmitter levels and improves affective phenotypes in a mouse model of Huntington disease.

artículo científico publicado en 2016

Truncation mutations in ABCA1 suppress normal upregulation of full-length ABCA1 by 9-cis-retinoic acid and 22-R-hydroxycholesterol

artículo científico publicado en 2002

Two common mutations (D9N, N291S) in lipoprotein lipase: a cumulative analysis of their influence on plasma lipids and lipoproteins in men and women

artículo científico publicado en 1999

Two novel mutations in apolipoprotein C3 underlie atheroprotective lipid profiles in families ⬇️

artículo científico publicado el 24 de junio de 2013

U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8

article

Unstable familial transmissions of Huntington disease alleles with 27-35 CAG repeats (intermediate alleles).

artículo científico publicado en 2010

Update on genetics of Huntington's disease: availability of direct and accurate predictive test

artículo científico publicado en 1996

Urinary proteins in a patient with Tangier disease

artículo científico publicado en 1985

VKORC1 and CYP2C9 genotypes are predictors of warfarin-related outcomes in children.

artículo científico publicado en 2014

Variations on a gene: rare and common variants in ABCA1 and their impact on HDL cholesterol levels and atherosclerosis

artículo científico publicado en 2006

Verbal episodic memory declines prior to diagnosis in Huntington's disease

artículo científico publicado en 2007

What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration ⬇️

artículo científico publicado el 12 de noviembre de 2011

When access is an issue: exploring barriers to predictive testing for Huntington disease in British Columbia, Canada

artículo científico publicado en 2012

When good drugs go bad.

artículo científico publicado en 2007

Wild-type HTT modulates the enzymatic activity of the neuronal palmitoyl transferase HIP14.

artículo científico publicado en 2011

Wild-type huntingtin ameliorates striatal neuronal atrophy but does not prevent other abnormalities in the YAC128 mouse model of Huntington disease

artículo científico publicado en 2006

Wild-type huntingtin protects neurons from excitotoxicity

artículo científico publicado en 2006

eEF2K inhibition blocks Aβ42 neurotoxicity by promoting an NRF2 antioxidant response.

artículo científico publicado en 2016

miR-33a modulates ABCA1 expression, cholesterol accumulation, and insulin secretion in pancreatic islets.

artículo científico publicado en 2012

p53 increases caspase-6 expression and activation in muscle tissue expressing mutant huntingtin

artículo científico publicado en 2013

Lista de obras de Michael R. Hayden

"Grasping the grey": patient understanding and interpretation of an intermediate allele predictive test result for Huntington disease.

A 4 basepair deletion in exon 4 of the human lipoprotein lipase gene results in type I hyperlipoproteinemia

A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing

A Common Mutation in the Lipoprotein Lipase Gene (N291S) Alters the Lipoprotein Phenotype and Risk for Cardiovascular Disease in Patients With Familial Hypercholesterolemia ⬇️

A Huntingtin-based peptide inhibitor of caspase-6 provides protection from mutant Huntingtin-induced motor and behavioral deficits

A Huntington disease-like neurodegenerative disorder maps to chromosome 20p.

A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington disease

A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease

A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration.

A clinical tool for reducing central nervous system depression among neonates exposed to codeine through breast milk.

A coding variant in RARG confers susceptibility to anthracycline-induced cardiotoxicity in childhood cancer

A common truncation variant of lipoprotein lipase (Ser447X) confers protection against coronary heart disease: the Framingham Offspring Study

A fully humanized transgenic mouse model of Huntington disease.

A functional ABCA1 gene variant is associated with low HDL-cholesterol levels and shows evidence of positive selection in Native Americans.

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.

A grand challenge: providing benefits of clinical genetics to those in need.

A highly polymorphic locus very tightly linked to the Huntington's disease gene ⬇️

A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis

A human huntingtin SNP alters post-translational modification and pathogenic proteolysis of the protein causing Huntington disease.

A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis ⬇️

A longitudinal study of magnetic resonance spectroscopy Huntington's disease biomarkers

A low-copy repeat located in subtelomeric regions of 14 different human chromosomal termini ⬇️

A missense mutation Pro157 Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activity

A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length.

A new mutation for Huntington disease following maternal transmission of an intermediate allele

A novel Glu421Lys substitution in the lipoprotein lipase gene in pregnancy-induced hypertriglyceridemic pancreatitis

A novel humanized mouse model of Huntington disease for preclinical development of therapeutics targeting mutant huntingtin alleles

A novel microdeletion affecting the CETP gene raises HDL-associated cholesterol levels

A novel pathogenic pathway of immune activation detectable before clinical onset in Huntington's disease

A one-hit model of cell death in inherited neuronal degenerations

A pharmacogenetic signature of high response to Copaxone in late-phase clinical-trial cohorts of multiple sclerosis.

A polymorphic DNA marker at the D10S106 locus

A polymorphic DNA probe located to human chromosome 4p16 (D4S62)

A quantitative method for the specific assessment of caspase-6 activity in cell culture

A role for epsin N-terminal homology/AP180 N-terminal homology (ENTH/ANTH) domains in tubulin binding

A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry

A systematic review and meta-analysis of clinical variables used in Huntington disease research

A true mentor and pioneer in medical genetics.

A whole brain longitudinal study in the YAC128 mouse model of Huntington's disease shows distinct trajectories of neurochemical, structural connectivity and volumetric changes

A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington disease. ⬇️

ABCA1 deficiency and cellular cholesterol accumulation increases islet amyloidogenesis in mice

ABCA1 gene mutations, HDL cholesterol levels, and risk of ischemic heart disease

ABCA1 in adipocytes regulates adipose tissue lipid content, glucose tolerance, and insulin sensitivity

ABCA1 influences neuroinflammation and neuronal death

ABCA1 is essential for efficient basolateral cholesterol efflux during the absorption of dietary cholesterol in chickens

ABCA1 mRNA and protein distribution patterns predict multiple different roles and levels of regulation

ABCA1 regulatory variants influence coronary artery disease independent of effects on plasma lipid levels.

ABCA8 Regulates Cholesterol Efflux and High-Density Lipoprotein Cholesterol Levels.

Aberrant palmitoylation in Huntington disease

Absence of behavioral abnormalities and neurodegeneration in vivo despite widespread neuronal huntingtin inclusions

Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript

Absence of stearoyl-CoA desaturase-1 ameliorates features of the metabolic syndrome in LDLR-deficient mice.

Absence of stearoyl-CoA desaturase-1 does not promote DSS-induced acute colitis.

Accumulation of N-terminal mutant huntingtin in mouse and monkey models implicated as a pathogenic mechanism in Huntington's disease.

Accurate determination of the number of CAG repeats in the Huntington disease gene using a sequence-specific internal DNA standard

Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene

Acidic and basic fibroblast growth factor-like immunoreactivity in the striatum and midbrain in Huntington's disease

Activated caspase-6 and caspase-6-cleaved fragments of huntingtin specifically colocalize in the nucleus

Acute hypertriglyceridemic pancreatitis during pregnancy due to homozygous lipoprotein lipase gene mutation

Adenosine-triphosphate-binding cassette transporter-1 trafficking and function

Adoption and the communication of genetic risk: experiences in Huntington disease.

Adverse drug reaction active surveillance: developing a national network in Canada's children's hospitals.

Adverse psychological events occurring in the first year after predictive testing for Huntington's disease. The Canadian Collaborative Study Predictive Testing

Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes.

Age-dependent alterations of corticostriatal activity in the YAC128 mouse model of Huntington disease

Age-dependent neurovascular abnormalities and altered microglial morphology in the YAC128 mouse model of Huntington disease

Allele-specific suppression of mutant huntingtin using antisense oligonucleotides: providing a therapeutic option for all Huntington disease patients

Allelic variation in the promoter region of the LDL receptor gene: analysis of an African-specific variant in the FP2 cis-acting regulatory element

Alterations of plasma lipids in mice via adenoviral-mediated hepatic overexpression of human ABCA1.

Altered NMDA receptor trafficking in a yeast artificial chromosome transgenic mouse model of Huntington's disease.

Altered Regulation of Striatal Neuronal -Methyl-D-Aspartate Receptor Trafficking by Palmitoylation in Huntington Disease Mouse Model

Altered adult hippocampal neurogenesis in the YAC128 transgenic mouse model of Huntington disease

Altered palmitoylation and neuropathological deficits in mice lacking HIP14.

Altering cortical input unmasks synaptic phenotypes in the YAC128 cortico-striatal co-culture model of Huntington disease.

Alternate transcripts expressed in response to diet reflect tissue-specific regulation of ABCA1

Amelioration of Hypertriglyceridemia with Hypo-Alpha-Cholesterolemia in LPL Deficient Mice by Hematopoietic Cell-Derived LPL ⬇️

Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin

An Alu element retroposition in two families with Huntington disease defines a new active Alu subfamily