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Lista de obras de David Thorburn

13C and 31P NMR studies of the pentose phosphate pathway in human erythrocytes

artículo científico publicado en 1990

189th ENMC International workshop Complex I deficiency: Diagnosis and treatment 20–22 April 2012, Naarden, The Netherlands ⬇️

artículo científico publicado el 11 de abril de 2013

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

artículo científico publicado en 2013

A False-Positive Diagnosis for the Common MELAS (A3243G) Mutation Caused by a Novel Variant (A3426G) in the ND1 Gene of Mitochondria DNA

artículo científico publicado en 1998

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.

artículo científico publicado en 2016

A case of myelopathy, myopathy, peripheral neuropathy and subcortical grey matter degeneration associated with recessive compound heterozygous POLG1 mutations.

artículo científico publicado en 2012

A fluorimetric assay for succinic semialdehyde dehydrogenase activity suitable for prenatal diagnosis of the enzyme deficiency.

artículo científico publicado en 1993

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome

artículo científico publicado en 2014

A four-nucleotide insertion hotspot in the X chromosome located pyruvate dehydrogenase E1 alpha gene (PDHA1)

artículo científico publicado en 1993

A mitochondrial protein compendium elucidates complex I disease biology

artículo científico publicado en 2008

A mutation in MT-TW causes a tRNA processing defect and reduced mitochondrial function in a family with Leigh syndrome.

artículo científico publicado en 2015

A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy.

artículo científico publicado en 1997

A novel mtDNA deletion in an infant with Pearson syndrome

scientific article published on 01 January 1994

A novel mutation (P316L) in a female with pyruvate dehydrogenase E1 alpha deficiency

scientific article published on 01 January 1995

A novel mutation and a polymorphism in the X chromosome located pyruvate dehydrogenase E1 alpha gene (PDHA1)

scientific article published on 01 November 1993

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein‐truncating variant

article

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

artículo científico publicado en 2016

A topoisomerase II cleavage site is associated with a novel mitochondrial DNA deletion

scientific article published on 01 January 1995

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

artículo científico publicado en 2017

Absence of common trifunctional protein mutation in patients with Alpers disease

artículo científico publicado en 1997

Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders

artículo científico publicado en 2007

Accessory subunits are integral for assembly and function of human mitochondrial complex I.

artículo científico publicado en 2016

Alpers syndrome with mutations in POLG: clinical and investigative features.

artículo científico publicado en 2011

Analysis of mitochondrial subunit assembly into respiratory chain complexes using Blue Native polyacrylamide gel electrophoresis

artículo científico publicado en 2007

Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex I

artículo científico publicado en 2007

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases

artículo científico publicado en 2021

Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome

artículo científico publicado en 2010

Assembly of mitochondrial complex I and defects in disease

artículo científico publicado en 2008

Assembly of nuclear DNA-encoded subunits into mitochondrial complex IV, and their preferential integration into supercomplex forms in patient mitochondria

artículo científico publicado en 2009

Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling

artículo científico publicado en 2013

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

artículo científico

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

artículo científico publicado en 2018

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

artículo científico publicado en 2016

Biochemical analyses of the electron transport chain complexes by spectrophotometry.

artículo científico publicado en 2012

Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders.

artículo científico publicado en 2004

Biochemical assays of respiratory chain complex activity

artículo científico publicado en 2007

Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon

scientific article published on 07 June 2019

COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2

artículo científico publicado en 2015

Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I

artículo científico publicado en 2015

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

artículo científico publicado en 2019

Combined malonic and methylmalonic aciduria with normal malonyl‐coenzyme A decarboxylase activity: A case supporting multiple aetiologies ⬇️

artículo científico publicado el 1 de junio de 1998

Comparison of computer simulations of the F-type and L-type non-oxidative hexose monophosphate shunts with 31P-NMR experimental data from human erythrocytes.

artículo científico publicado en 1989

Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction

artículo científico publicado en 2017

Computer simulation of the metabolic consequences of the combined deficiency of 6-phosphogluconolactonase and glucose-6-phosphate dehydrogenase in human erythrocytes

scientific article published on 01 July 1987

Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child

artículo científico publicado en 2018

Cytosolic Recognition of RNA Drives the Immune Response to Heterologous Erythrocytes.

artículo científico publicado en 2017

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

artículo científico publicado en 2004

Decreased activities of mitochondrial respiratory chain complexes in non-mitochondrial respiratory chain diseases.

artículo científico publicado en 2006

Deficiency in Apoptosis-Inducing Factor Recapitulates Chronic Kidney Disease via Aberrant Mitochondrial Homeostasis

artículo científico publicado en 2016

Deficiency in mitochondrial complex I activity due to Ndufs6 gene trap insertion induces renal disease.

artículo científico publicado en 2013

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect

artículo científico publicado en 2014

Deletion of the Complex I Subunit NDUFS4 Adversely Modulates Cellular Differentiation.

artículo científico publicado en 2015

Determination of erythrocyte glucose 1,6-bisphosphate--a comparison of two methods using a centrifugal analyzer

artículo científico publicado en 1987

Diagnosis of mitochondrial disorders: clinical and biochemical approach

artículo científico publicado en 2001

Diagnostic criteria for respiratory chain disorders in adults and children.

artículo científico publicado en 2002

Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia

artículo científico publicado en 1999

Diverse powerhouses

artículo científico publicado en 2004

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.

artículo científico publicado en 2006

Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing

scientific article published on 29 July 2019

Epidemiological risk factors for hypersensitivity reactions to abacavir* ⬇️

artículo científico publicado el 1 de octubre de 2003

Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locus

artículo científico publicado en 2020

Fatal portal hypertension, liver failure, and mitochondrial dysfunction after HIV-1 nucleoside analogue-induced hepatitis and lactic acidaemia.

artículo científico publicado en 2001

Flow cytometry in the study of mitochondrial respiratory chain disorders.

artículo científico publicado en 2002

Fumarase deficiency in dichorionic diamniotic twins.

artículo científico publicado en 2013

Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome

artículo científico publicado en 2019

Functional characterization of Friedreich ataxia iPS-derived neuronal progenitors and their integration in the adult brain

artículo científico publicado en 2014

G6PD in Plasmodium-infected erythrocytes

artículo científico publicado en 1987

Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993

artículo científico publicado en 1999

Glutathione regeneration in density-fractionated human erythrocytes

scientific article published on 01 January 1987

HIGD2A is required for assembly of the COX3 module of human mitochondrial complex IV

artículo científico publicado en 2020

HIV-1 protein Vpr causes gross mitochondrial dysfunction in the yeast Saccharomyces cerevisiae

artículo científico publicado en 1997

High-intensity training induces non-stoichiometric changes in the mitochondrial proteome of human skeletal muscle without reorganisation of respiratory chain content

artículo científico publicado en 2021

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

artículo científico publicado en 2010

Holocarboxylase synthetase deficiency: urinary metabolites masked by gross ketosis

artículo científico publicado en 2000

Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease

artículo científico publicado en 2007

IGF2BP2/IMP2-Deficient mice resist obesity through enhanced translation of Ucp1 mRNA and Other mRNAs encoding mitochondrial proteins

artículo científico publicado en 2015

Impact of a genetic diagnosis of a mitochondrial disorder 5-17 years after the death of an affected child.

artículo científico publicado en 2008

Juvenile Alpers disease

scientific article published on 01 January 2008

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure

scientific journal article

Late-adult onset Leigh syndrome.

artículo científico publicado en 2012

Leigh Syndrome Caused by the MT-ND5 m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Defect, Cardiomyopathy, Hypertension and Hyponatraemia.

artículo científico publicado en 2015

Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families

artículo científico publicado en 2000

Leigh syndrome caused by mutations in is associated with a better prognosis

article

Leigh syndrome: One disorder, more than 75 monogenic causes

artículo científico publicado en 2015

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

artículo científico publicado en 1996

Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).

artículo científico publicado en 2016

Loss of BIM increases mitochondrial oxygen consumption and lipid oxidation, reduces adiposity and improves insulin sensitivity in mice

artículo científico publicado en 2017

Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.

artículo científico publicado en 2003

MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency.

artículo científico publicado en 2003

MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria

artículo científico publicado en 2016

Malonic aciduria and cardiomyopathy

scientific article published on 01 January 1993

Mapping time-course mitochondrial adaptations in the kidney in experimental diabetes

artículo científico publicado en 2016

Minimum birth prevalence of mitochondrial respiratory chain disorders in children

artículo científico publicado en 2003

Mitochondrial diseases

Mitochondrial diseases: beyond the magic circle

artículo científico publicado en 2001

Mitochondrial diseases: not so rare after all

scientific article published on 01 January 2004

Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options.

artículo científico publicado en 2001

Mitochondrial disorders: prevalence, myths and advances.

artículo científico publicado en 2004

Mitochondrial dysfunction in a novel form of autosomal recessive ataxia

artículo científico publicado en 2012

Mitochondrial dysfunction in diabetic kidney disease

artículo científico publicado en 2018

Mitochondrial electron transport chain defect presenting as hypoglycemia

artículo científico publicado en 1997

Mitochondrial energy generation disorders: genes, mechanisms and clues to pathology.

artículo científico publicado en 2017

Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin

artículo científico publicado en 1997

Mitochondrial oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnoses.

artículo científico publicado en 2008

Mitochondrial respiratory chain hepatopathies: role of liver transplantation. A case series of five patients.

artículo científico publicado en 2011

Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients

artículo científico publicado en 2006

Modelling biochemical features of mitochondrial neuropathology.

artículo científico

Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: focusing on mitochondrial DNA depletion syndrome

artículo científico publicado en 2014

Monitoring metabolic reactions in erythrocytes using NMR spectroscopy

scientific article published on 01 January 1984

Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis

artículo científico publicado en 2005

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia

artículo científico publicado en 2015

Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease

artículo científico publicado en 2008

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome

artículo científico publicado en 2010

Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography.

artículo científico publicado en 2004

Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.

artículo científico publicado en 2013

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

artículo científico publicado en 2013

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

artículo científico publicado en 2011

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

artículo científico publicado en 2013

Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration

artículo científico publicado en 2006

Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1

artículo científico publicado en 2011

Mutations of the mitochondrial ND1 gene as a cause of MELAS.

artículo científico publicado en 2004

N-Acetylcysteine improves mitochondrial function and ameliorates behavioral deficits in the R6/1 mouse model of Huntington's disease

artículo científico publicado en 2015

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses

artículo científico publicado en 2019

Nemaline rods and complex I deficiency in three infants with hypotonia, motor delay and failure to thrive.

artículo científico publicado en 2004

Neuronal and astrocyte dysfunction diverges from embryonic fibroblasts in the Ndufs4fky/fky mouse.

artículo científico publicado en 2014

Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease

artículo científico publicado en 2016

Next-generation sequencing in molecular diagnosis:NUBPLmutations highlight the challenges of variant detection and interpretation

artículo científico publicado en 2011

No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutation.

artículo científico publicado en 2004

No evidence of a role for mitochondrial complex I in Helicobacter pylori pathogenesis

artículo científico publicado en 2017

Novel Mitochondrial DNA Variant That May Give a False Positive Diagnosis for the T8993C Mutation

artículo científico publicado en 1998

Nuclear Gene-Encoded Leigh Syndrome Overview

artículo científico publicado en 1993

Ophthalmologic presentation of oxidative phosphorylation diseases of childhood.

artículo científico publicado en 2008

POLG mutations and Alpers syndrome

artículo científico publicado en 2005

Phenotypic variation ofTTC19-deficient mitochondrial complex III deficiency: A case report and literature review

article

Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene

scientific journal article

Public attitudes towards novel reproductive technologies: a citizens’ jury on mitochondrial donation

artículo científico publicado en 2019

Quality improvement of mitochondrial respiratory chain complex enzyme assays using Caenorhabditis elegans

artículo científico publicado en 2011

RAGE-induced cytosolic ROS promote mitochondrial superoxide generation in diabetes.

artículo científico publicado en 2009

Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient

artículo científico publicado en 2014

Regulation of the human-erythrocyte hexose-monophosphate shunt under conditions of oxidative stress. A study using NMR spectroscopy, a kinetic isotope effect, a reconstituted system and computer simulation

scientific article published in 1985

Reply: Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance.

artículo científico publicado en 2017

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

artículo científico publicado en 2011

Respiratory chain enzyme analysis in muscle and liver.

artículo científico publicado en 2004

Risk of developing a mitochondrial DNA deletion disorder

artículo científico publicado en 2004

SURF1 deficiency: a multi-centre natural history study.

artículo científico publicado en 2013

Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex.

artículo científico publicado en 2017

Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations

artículo científico publicado en 2018

Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates.

artículo científico publicado en 2005

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation

artículo científico publicado en 2015

Succinic semialdehyde dehydrogenase deficiency: low excretion of metabolites in a neonate

artículo científico publicado en 1997

Targeted exome sequencing of suspected mitochondrial disorders

artículo científico publicado en 2013

The Loss of Enzyme Activity from Erythroid Cells During Maturation ⬇️

artículo científico publicado el 1 de enero de 1991

The TIM22 complex mediates the import of sideroflexins and is required for efficient mitochondrial one-carbon metabolism

artículo científico publicado en 2021

The importance of liver biopsy in the investigation of possible mitochondrial respiratory chain disease.

artículo científico publicado en 2005

The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?

scientific article published on 01 November 2000

The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy

scientific article published on 01 August 1999

The molecular basis of human complex I deficiency.

artículo científico publicado en 2011

The molecular basis of malonyl-CoA decarboxylase deficiency.

artículo científico publicado en 1999

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families ⬇️

artículo científico publicado el 6 de septiembre de 2010

The pros and cons of mitochondrial manipulation in the human germ line

scientific article published on 01 August 2001

The relationship between glucose concentration and rate of lactate production by human erythrocytes in an open perfusion system.

artículo científico publicado en 1984

Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment

artículo científico publicado en 2014

Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy

scientific journal article

Toward a mtDNA locus-specific mutation database using the LOVD platform

artículo científico publicado en 2012

Treatment for mitochondrial disorders

artículo científico publicado en 2006

Turn up the power - pharmacological activation of mitochondrial biogenesis in mouse models.

artículo científico publicado en 2014

Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA

scientific article published on 01 December 1999

Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder

artículo científico publicado en 2016

Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease.

artículo científico publicado en 2016

mtDNA deletion in a patient with symptoms of mitochondrial cytopathy but without ragged red fibers.

artículo científico publicado en 1995

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