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List of works by David Thorburn

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

scientific article published on 01 January 1990

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

scientific article published on April 11, 2013

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

scientific article published on 25 January 2013

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

scientific article published on 01 December 1998

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

scientific article

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

scientific article published on 21 February 2012

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

scientific article published in January 1993

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

scientific article published on 23 January 2014

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

scientific article published on 01 April 1993

A mitochondrial protein compendium elucidates complex I disease biology

scientific article

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

scientific article published on 30 October 2015

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

scientific article published on May 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

scientific article published on 18 April 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

scientific article

Absence of common trifunctional protein mutation in patients with Alpers disease

scientific article published on 01 November 1997

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 24 February 2007

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

scientific article

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases

scientific article published on 20 April 2021

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

scientific article published on 12 August 2010

Assembly of mitochondrial complex I and defects in disease

scientific article published on 04 May 2008

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

scientific article published on 16 October 2009

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

scientific article published on 23 December 2013

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

scientific article published on August 2017

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

scientific article

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

scientific article published on 29 June 2016

Biochemical analyses of the electron transport chain complexes by spectrophotometry.

scientific article published on January 2012

Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders.

scientific article

Biochemical assays of respiratory chain complex activity

scientific article published on January 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

scientific article

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

scientific article

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

scientific article published on 19 November 2019

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

scientific article published on June 1, 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.

scientific article

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

scientific article

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

scientific article published on 11 December 2018

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

scientific article published in November 2017

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

scientific article (publication date: 2004)

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

scientific article published on February 2006

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

scientific article published on 28 January 2016

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

scientific article

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect

scientific article published on 10 December 2014

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

scientific article published on 26 November 2015

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

scientific article published on 01 April 1987

Diagnosis of mitochondrial disorders: clinical and biochemical approach

scientific article published on 01 April 2001

Diagnostic criteria for respiratory chain disorders in adults and children.

scientific article published in November 2002

Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia

scientific article published on 01 May 1999

Diverse powerhouses

scientific article

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

scientific article published on 4 April 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* ⬇️

scientific article published on October 1, 2003

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

scientific article published on 09 July 2020

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

scientific article

Flow cytometry in the study of mitochondrial respiratory chain disorders.

scientific article published in May 2002

Fumarase deficiency in dichorionic diamniotic twins.

scientific article published on 4 November 2013

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

scientific article published on 04 November 2019

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

scientific article

G6PD in Plasmodium-infected erythrocytes

scientific article published on 01 February 1987

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

scientific article

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

scientific article published on 21 April 2020

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

scientific article published on 01 June 1997

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

scientific article published on 03 December 2021

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

scientific article

Holocarboxylase synthetase deficiency: urinary metabolites masked by gross ketosis

scientific article published on 01 December 2000

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

scientific article

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

scientific article

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

scientific article

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.

scientific article published on February 2012

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

scientific article published on 15 February 2015

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

scientific article published on 01 July 2000

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

article

Leigh syndrome: One disorder, more than 75 monogenic causes

scientific article published on 27 October 2015

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

scientific article

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

scientific article

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

scientific article

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

scientific article published in October 2003

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

scientific article published on October 2003

MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria

scientific article published on 13 January 2016

Malonic aciduria and cardiomyopathy

scientific article published on 01 January 1993

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

scientific article published on February 2016

Minimum birth prevalence of mitochondrial respiratory chain disorders in children

scientific article published on 21 May 2003

Mitochondrial diseases

Mitochondrial diseases: beyond the magic circle

scientific article published on 01 January 2001

Mitochondrial diseases: not so rare after all

scientific article published on 01 January 2004

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

scientific article

Mitochondrial disorders: prevalence, myths and advances.

scientific article published on January 2004

Mitochondrial dysfunction in a novel form of autosomal recessive ataxia

scientific article

Mitochondrial dysfunction in diabetic kidney disease

scientific article

Mitochondrial electron transport chain defect presenting as hypoglycemia

scientific article published on 01 March 1997

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients

scientific article

Modelling biochemical features of mitochondrial neuropathology.

scientific article published on 23 October 2013

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

scientific article published on 06 March 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

scientific article (publication date: June 2005)

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

scientific article published on 2 January 2015

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

scientific article

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

scientific article

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

scientific article published on 11 November 2004

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

scientific article published on August 2013

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

scientific article published on 28 June 2013

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published in October 2004

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

scientific article

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

scientific article published on 01 January 2019

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

scientific article published in October 2004

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

scientific article

Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease

scientific article published on 27 July 2016

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

scientific article published on 22 December 2011

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

scientific article published on August 2004

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

scientific article

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

scientific article published on 01 June 1998

Nuclear Gene-Encoded Leigh Syndrome Overview

scientific article

Ophthalmologic presentation of oxidative phosphorylation diseases of childhood.

scientific article published on June 2008

POLG mutations and Alpers syndrome

scientific article published on 01 June 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

scientific article published on 01 April 2019

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

scientific article published on September 2011

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

scientific article published on 21 January 2009

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

scientific article

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.

scientific article published on 6 October 2017

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

scientific article

Respiratory chain enzyme analysis in muscle and liver.

scientific article published in September 2004

Risk of developing a mitochondrial DNA deletion disorder

scientific article published in The Lancet

SURF1 deficiency: a multi-centre natural history study.

scientific article published on 05 July 2013

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

scientific article published on 11 July 2017

Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations

scientific article published on 14 April 2018

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

scientific article published in July 2005

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

scientific article

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

scientific article published on 01 March 1997

Targeted exome sequencing of suspected mitochondrial disorders

scientific article published on 17 April 2013

The Loss of Enzyme Activity from Erythroid Cells During Maturation ⬇️

scientific article published on January 1, 1991

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

scientific article published on 21 January 2021

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

scientific article published in August 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.

scientific article published on 15 July 2011

The molecular basis of malonyl-CoA decarboxylase deficiency.

scientific article

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

scientific article published on September 6, 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.

scientific article published in October 1984

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

scientific article

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

scientific article

Treatment for mitochondrial disorders

scientific article (published 2006-01-25)

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

scientific article published on April 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

scientific article published on 26 June 2016

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

scientific article published on 19 October 2016

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

scientific article published in October 1995

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