Lista de obras - R Wade-Martins - Dominio Público Uruguay

A BACwards glance at neurodegeneration: molecular insights into disease from LRRK2, SNCA and MAPT BAC-transgenic mice.

artículo científico

A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds.

artículo científico publicado en 2013

A Genomic DNA Reporter Screen Identifies Squalene Synthase Inhibitors That Act Cooperatively with Statins to Upregulate the Low-Density Lipoprotein Receptor

artículo científico publicado en 2017

A Highly Efficient Human Pluripotent Stem Cell Microglia Model Displays a Neuronal-Co-culture-Specific Expression Profile and Inflammatory Response

artículo científico publicado en 2017

A common variant associated with dyslexia reduces expression of the KIAA0319 gene

artículo científico publicado en 2009

A high-throughput pharmaceutical screen identifies compounds with specific toxicity against BRCA2-deficient tumors

artículo científico publicado en 2009

A novel human artificial chromosome gene expression system using herpes simplex virus type 1 vectors.

artículo científico publicado en 2006

A novel method for autophagy detection in primary cells: impaired levels of macroautophagy in immunosenescent T cells

artículo científico publicado en 2012

A novel role for endothelial tetrahydrobiopterin in mitochondrial redox balance

artículo científico publicado en 2017

A single-cell atlas of the human substantia nigra reveals cell-specific pathways associated with neurological disorders

scientific article published on 21 August 2020

Advances in high-capacity extrachromosomal vector technology: episomal maintenance, vector delivery, and transgene expression.

artículo científico publicado en 2008

Alpha-synuclein RT-QuIC in the CSF of patients with alpha-synucleinopathies.

artículo científico publicado en 2016

Alpha-synuclein oligomers: a new hope.

artículo científico publicado en 2017

An S/MAR-based infectious episomal genomic DNA expression vector provides long-term regulated functional complementation of LDLR deficiency.

artículo científico publicado en 2007

An infectious transfer and expression system for genomic DNA loci in human and mouse cells

scientific article published on 01 November 2001

Are rodent models of Parkinson's disease behaving as they should?

artículo científico publicado en 2017

Assessing the functional characteristics of synonymous and nonsynonymous mutation candidates by use of large DNA constructs.

artículo científico publicado en 2007

C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal

artículo científico publicado en 2016

CLR01 protects dopaminergic neurons in vitro and in mouse models of Parkinson's disease

artículo científico publicado en 2020

Can pathological oligomeric proteins make good biomarkers? (Commentary on Williams et al.)

artículo científico publicado en 2015

Cellular reprogramming: a new approach to modelling Parkinson's disease.

artículo científico publicado en 2012

Combining M-FISH and Quantum Dot technology for fast chromosomal assignment of transgenic insertions.

artículo científico publicado en 2011

Commentary: Parkinson disease-linked GBA mutation effects reversed by molecular chaperones in human cell and fly models

artículo científico publicado en 2016

Convergent pathways in Parkinson's disease

artículo científico publicado en 2017

Deficits in dopaminergic transmission precede neuron loss and dysfunction in a new Parkinson model

artículo científico publicado en 2013

Delivering RNA interference to the mammalian brain.

artículo científico publicado en 2005

Delivery and long-term expression of a 135 kb LDLR genomic DNA locus in vivo by hydrodynamic tail vein injection.

artículo científico publicado en 2007

Delivery of large genomic DNA inserts >100 kb using HSV-1 amplicons.

artículo científico publicado en 2006

Delivery of the 135 kb human frataxin genomic DNA locus gives rise to different frataxin isoforms.

artículo científico publicado en 2015

Developing extrachromosomal gene expression vector technologies: an overview.

artículo científico publicado en 2011

Direct visualization of alpha-synuclein oligomers reveals previously undetected pathology in Parkinson's disease brain

artículo científico publicado en 2015

ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons.

artículo científico publicado en 2016

Episomal Nonviral Gene Therapy Vectors Slow Progression of Atherosclerosis in a Model of Familial Hypercholesterolemia

artículo científico publicado en 2016

Episomal transgene expression in pluripotent stem cells.

artículo científico publicado en 2011

Excess α-synuclein compromises phagocytosis in iPSC-derived macrophages

artículo científico publicado en 2017

Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells

artículo científico publicado en 2015

Familial Alzheimer's disease coding mutations reduce Presenilin-1 expression in a novel genomic locus reporter model.

artículo científico publicado en 2013

Functional MAPT haplotypes: bridging the gap between genotype and neuropathology

artículo científico publicado en 2007

Functional alterations to the nigrostriatal system in mice lacking all three members of the synuclein family

artículo científico publicado en 2011

Functional and genetic analysis of haplotypic sequence variation at the nicastrin genomic locus

artículo científico publicado en 2012

Functional delivery of large genomic DNA to human cells with a peptide-lipid vector

artículo científico publicado en 2003

GABA uptake transporters support dopamine release in dorsal striatum with maladaptive downregulation in a parkinsonism model

artículo científico publicado en 2020

Growth Arrest Specific 1 (Gas1) Gene Overexpression in Liver Reduces the In Vivo Progression of Murine Hepatocellular Carcinoma and Partially Restores Gene Expression Levels

artículo científico publicado en 2015

Guidelines for the use and interpretation of assays for monitoring autophagy

artículo científico publicado en 2012

Haplotype-specific MAPT exon 3 expression regulated by common intronic polymorphisms associated with Parkinsonian disorders.

artículo científico publicado en 2017

High capacity extrachromosomal gene expression vectors.

artículo científico publicado en 2011

Identification of distinct circulating exosomes in Parkinson's disease

artículo científico publicado en 2015

Impaired intracellular trafficking defines early Parkinson's disease

artículo científico

Improving the physiological realism of experimental models.

artículo científico publicado en 2016

Increased 4R tau expression and behavioural changes in a novel MAPT-N296H genomic mouse model of tauopathy

artículo científico publicado en 2017

Increased striatal dopamine release and hyperdopaminergic-like behaviour in mice lacking both alpha-synuclein and gamma-synuclein

scientific journal article

Induced pluripotent stem cell (iPSC)-derived dopaminergic models of Parkinson's disease.

artículo científico

Infectious delivery and long-term persistence of transgene expression in the brain by a 135-kb iBAC-FXN genomic DNA expression vector.

artículo científico publicado en 2011

Infectious delivery of 120-kilobase genomic DNA by an epstein-barr virus amplicon vector

artículo científico publicado en 2002

Infectious delivery of a 135-kb LDLR genomic locus leads to regulated complementation of low-density lipoprotein receptor deficiency in human cells.

artículo científico publicado en 2003

Infectious delivery of the 132 kb CDKN2A/CDKN2B genomic DNA region results in correctly spliced gene expression and growth suppression in glioma cells.

artículo científico publicado en 2004

Insights into LRRK2 function and dysfunction from transgenic and knockout rodent models ⬇️

artículo científico publicado el 1 de octubre de 2012

Knock-out and transgenic mouse models of tauopathies.

artículo científico publicado en 2007

LRRK2 BAC transgenic rats develop progressive, L-DOPA-responsive motor impairment, and deficits in dopamine circuit function

artículo científico publicado en 2016

LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia

artículo científico publicado en 2007

LRRTM1 protein is located in the endoplasmic reticulum (ER) in mammalian cells

article published in 2007

Lentiviral gene transfer to reduce atherosclerosis progression by long-term CC-chemokine inhibition.

artículo científico publicado en 2008

Long-term physiologically regulated expression of the low-density lipoprotein receptor in vivo using genomic DNA mini-gene constructs

artículo científico publicado en 2009

Loss of MicroRNA-7 Regulation Leads to α-Synuclein Accumulation and Dopaminergic Neuronal Loss In Vivo

artículo científico publicado en 2017

MAPT Genetic Variation and Neuronal Maturity Alter Isoform Expression Affecting Axonal Transport in iPSC-Derived Dopamine Neurons.

artículo científico publicado en 2017

Mitochondrial dysfunction and increased glycolysis in prodromal and early Parkinson's blood cells

artículo científico publicado en 2018

Mitochondrial dysfunction and mitophagy in Parkinson's: from familial to sporadic disease

artículo científico publicado en 2015

Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency

artículo científico publicado en 2004

Oxidation Resistance 1 Modulates Glycolytic Pathways in the Cerebellum via an Interaction with Glucose-6-Phosphate Isomerase

scientific article published on 15 June 2018

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

artículo científico publicado en 2014

Parkinson's disease in a dish - Using stem cells as a molecular tool.

artículo científico

Physiological transgene regulation and functional complementation of a neurological disease gene deficiency in neurons

artículo científico publicado en 2009

Potential Metabolomic Linkage in Blood between Parkinson's Disease and Traumatic Brain Injury

artículo científico publicado en 2018

Preclinical development of a vaccine against oligomeric alpha-synuclein based on virus-like particles

artículo científico publicado en 2017

Protein-protein interaction networks identify targets which rescue the MPP+ cellular model of Parkinson's disease

artículo científico publicado en 2015

Quantitative characterization of cell transduction by HSV-1 amplicons using flow cytometry and real-time PCR.

artículo científico publicado en 2009

R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome.

artículo científico publicado en 2014

RNA dysfunction and aggrephagy at the centre of an amyotrophic lateral sclerosis/frontotemporal dementia disease continuum ⬇️

artículo científico publicado el 9 de marzo de 2013

RNA interference-mediated knockdown of alpha-synuclein protects human dopaminergic neuroblastoma cells from MPP(+) toxicity and reduces dopamine transport.

artículo científico publicado en 2007

RNAi-mediated knockdown of HMG CoA reductase enhances gene expression from physiologically regulated low-density lipoprotein receptor therapeutic vectors in vivo

artículo científico publicado en 2011

Region-specific deficits in dopamine, but not norepinephrine, signaling in a novel A30P α-synuclein BAC transgenic mouse

artículo científico publicado en 2013

Representation of spontaneous movement by dopaminergic neurons is cell-type selective and disrupted in parkinsonism

artículo científico publicado en 2016

Restoration of Physiologically Responsive Low-Density Lipoprotein Receptor-Mediated Endocytosis in Genetically Deficient Induced Pluripotent Stem Cells

artículo científico publicado en 2015

Sequences adjacent to oriP improve the persistence of Epstein-Barr virus-based episomes in B cells

artículo científico publicado en 2001

Single-copy expression of an amyotrophic lateral sclerosis-linked TDP-43 mutation (M337V) in BAC transgenic mice leads to altered stress granule dynamics and progressive motor dysfunction

artículo científico publicado en 2018

Smartphone motor testing to distinguish idiopathic REM sleep behavior disorder, controls, and PD

artículo científico publicado en 2018

TARDBP pathogenic mutations increase cytoplasmic translocation of TDP-43 and cause reduction of endoplasmic reticulum Ca²⁺ signaling in motor neurons

artículo científico publicado en 2014

Tau protein is required for amyloid {beta}-induced impairment of hippocampal long-term potentiation.

scientific article published on February 2011

The MAPT locus—a genetic paradigm in disease susceptibility ⬇️

artículo científico publicado el 1 de septiembre de 2012

The Role of Astrocyte Dysfunction in Parkinson's Disease Pathogenesis

artículo científico publicado en 2017

The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration

artículo científico publicado en 2006

The effect of alpha-synuclein knockdown on MPP+ toxicity in models of human neurons

artículo científico publicado en 2008

The influence of age and gender on motor and non-motor features of early Parkinson's disease: initial findings from the Oxford Parkinson Disease Center (OPDC) discovery cohort

artículo científico publicado en 2013

The role of MAPT sequence variation in mechanisms of disease susceptibility ⬇️

artículo científico publicado el 1 de agosto de 2012

Transcriptomic profiling of purified patient-derived dopamine neurons identifies convergent perturbations and therapeutics for Parkinson's disease

artículo científico publicado en 2017

Variant U1 snRNAs are implicated in human pluripotent stem cell maintenance and neuromuscular disease.

scientific article published on 17 August 2016

Whole-exome sequencing of 228 patients with sporadic Parkinson's disease

artículo científico publicado en 2017

Wild-Type, but Not Mutant N296H, Human Tau Restores Aβ-Mediated Inhibition of LTP in Tau-/- mice

artículo científico publicado en 2017

α-Synuclein and dopamine at the crossroads of Parkinson's disease

artículo científico publicado en 2010

α-Synuclein and mitochondrial bioenergetics regulate tetrahydrobiopterin levels in a human dopaminergic model of Parkinson disease

artículo científico publicado en 2013

Lista de obras de R Wade-Martins

A BACwards glance at neurodegeneration: molecular insights into disease from LRRK2, SNCA and MAPT BAC-transgenic mice.

A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds.

A Genomic DNA Reporter Screen Identifies Squalene Synthase Inhibitors That Act Cooperatively with Statins to Upregulate the Low-Density Lipoprotein Receptor

A Highly Efficient Human Pluripotent Stem Cell Microglia Model Displays a Neuronal-Co-culture-Specific Expression Profile and Inflammatory Response

A common variant associated with dyslexia reduces expression of the KIAA0319 gene

A high-throughput pharmaceutical screen identifies compounds with specific toxicity against BRCA2-deficient tumors

A novel human artificial chromosome gene expression system using herpes simplex virus type 1 vectors.

A novel method for autophagy detection in primary cells: impaired levels of macroautophagy in immunosenescent T cells

A novel role for endothelial tetrahydrobiopterin in mitochondrial redox balance

A single-cell atlas of the human substantia nigra reveals cell-specific pathways associated with neurological disorders

Advances in high-capacity extrachromosomal vector technology: episomal maintenance, vector delivery, and transgene expression.

Alpha-synuclein RT-QuIC in the CSF of patients with alpha-synucleinopathies.

Alpha-synuclein oligomers: a new hope.

An S/MAR-based infectious episomal genomic DNA expression vector provides long-term regulated functional complementation of LDLR deficiency.

An infectious transfer and expression system for genomic DNA loci in human and mouse cells

Are rodent models of Parkinson's disease behaving as they should?

Assessing the functional characteristics of synonymous and nonsynonymous mutation candidates by use of large DNA constructs.

C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal

CLR01 protects dopaminergic neurons in vitro and in mouse models of Parkinson's disease

Can pathological oligomeric proteins make good biomarkers? (Commentary on Williams et al.)

Cellular reprogramming: a new approach to modelling Parkinson's disease.

Combining M-FISH and Quantum Dot technology for fast chromosomal assignment of transgenic insertions.

Commentary: Parkinson disease-linked GBA mutation effects reversed by molecular chaperones in human cell and fly models

Convergent pathways in Parkinson's disease

Deficits in dopaminergic transmission precede neuron loss and dysfunction in a new Parkinson model

Delivering RNA interference to the mammalian brain.

Delivery and long-term expression of a 135 kb LDLR genomic DNA locus in vivo by hydrodynamic tail vein injection.

Delivery of large genomic DNA inserts >100 kb using HSV-1 amplicons.

Delivery of the 135 kb human frataxin genomic DNA locus gives rise to different frataxin isoforms.

Developing extrachromosomal gene expression vector technologies: an overview.

Direct visualization of alpha-synuclein oligomers reveals previously undetected pathology in Parkinson's disease brain

ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons.

Episomal Nonviral Gene Therapy Vectors Slow Progression of Atherosclerosis in a Model of Familial Hypercholesterolemia

Episomal transgene expression in pluripotent stem cells.

Excess α-synuclein compromises phagocytosis in iPSC-derived macrophages

Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells

Familial Alzheimer's disease coding mutations reduce Presenilin-1 expression in a novel genomic locus reporter model.

Functional MAPT haplotypes: bridging the gap between genotype and neuropathology

Functional alterations to the nigrostriatal system in mice lacking all three members of the synuclein family

Functional and genetic analysis of haplotypic sequence variation at the nicastrin genomic locus

Functional delivery of large genomic DNA to human cells with a peptide-lipid vector

GABA uptake transporters support dopamine release in dorsal striatum with maladaptive downregulation in a parkinsonism model

Growth Arrest Specific 1 (Gas1) Gene Overexpression in Liver Reduces the In Vivo Progression of Murine Hepatocellular Carcinoma and Partially Restores Gene Expression Levels

Guidelines for the use and interpretation of assays for monitoring autophagy

Haplotype-specific MAPT exon 3 expression regulated by common intronic polymorphisms associated with Parkinsonian disorders.

High capacity extrachromosomal gene expression vectors.

Identification of distinct circulating exosomes in Parkinson's disease

Impaired intracellular trafficking defines early Parkinson's disease

Improving the physiological realism of experimental models.

Increased 4R tau expression and behavioural changes in a novel MAPT-N296H genomic mouse model of tauopathy

Increased striatal dopamine release and hyperdopaminergic-like behaviour in mice lacking both alpha-synuclein and gamma-synuclein

Induced pluripotent stem cell (iPSC)-derived dopaminergic models of Parkinson's disease.

Infectious delivery and long-term persistence of transgene expression in the brain by a 135-kb iBAC-FXN genomic DNA expression vector.

Infectious delivery of 120-kilobase genomic DNA by an epstein-barr virus amplicon vector

Infectious delivery of a 135-kb LDLR genomic locus leads to regulated complementation of low-density lipoprotein receptor deficiency in human cells.

Infectious delivery of the 132 kb CDKN2A/CDKN2B genomic DNA region results in correctly spliced gene expression and growth suppression in glioma cells.

Insights into LRRK2 function and dysfunction from transgenic and knockout rodent models ⬇️

Knock-out and transgenic mouse models of tauopathies.

LRRK2 BAC transgenic rats develop progressive, L-DOPA-responsive motor impairment, and deficits in dopamine circuit function

LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia

LRRTM1 protein is located in the endoplasmic reticulum (ER) in mammalian cells

Lentiviral gene transfer to reduce atherosclerosis progression by long-term CC-chemokine inhibition.

Long-term physiologically regulated expression of the low-density lipoprotein receptor in vivo using genomic DNA mini-gene constructs

Loss of MicroRNA-7 Regulation Leads to α-Synuclein Accumulation and Dopaminergic Neuronal Loss In Vivo

MAPT Genetic Variation and Neuronal Maturity Alter Isoform Expression Affecting Axonal Transport in iPSC-Derived Dopamine Neurons.

Mitochondrial dysfunction and increased glycolysis in prodromal and early Parkinson's blood cells

Mitochondrial dysfunction and mitophagy in Parkinson's: from familial to sporadic disease

Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency

Oxidation Resistance 1 Modulates Glycolytic Pathways in the Cerebellum via an Interaction with Glucose-6-Phosphate Isomerase

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

Parkinson's disease in a dish - Using stem cells as a molecular tool.

Physiological transgene regulation and functional complementation of a neurological disease gene deficiency in neurons

Potential Metabolomic Linkage in Blood between Parkinson's Disease and Traumatic Brain Injury

Preclinical development of a vaccine against oligomeric alpha-synuclein based on virus-like particles

Protein-protein interaction networks identify targets which rescue the MPP+ cellular model of Parkinson's disease

Quantitative characterization of cell transduction by HSV-1 amplicons using flow cytometry and real-time PCR.

R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome.

RNA dysfunction and aggrephagy at the centre of an amyotrophic lateral sclerosis/frontotemporal dementia disease continuum ⬇️

RNA interference-mediated knockdown of alpha-synuclein protects human dopaminergic neuroblastoma cells from MPP(+) toxicity and reduces dopamine transport.