David Thorburn

The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

Lisa G Riley, Mark J Cowley, Velimir Gayevskiy, Andre E Minoche, Clare Puttick, David R Thorburn, Rocio Rius, Alison G Compton, Minal J Menezes, Kaustuv Bhattacharya, David Coman, Carolyn Ellaway, Ian E Alexander, Louisa Adams, Maina Kava, Jacqui Robinson, Carolyn M Sue, Shanti Balasubramaniam, John Christodoulou

Journal article  |  2020  |  Genetics in Medicine

Assessment of mitochondrial respiratory chain enzymes in cells and tissues.

Ann E Frazier, Amy E Vincent, Doug M Turnbull, David R Thorburn, Robert W Taylor

Book Chapter  |  2020  |  Methods in Cell Biology

Measurement of the individual enzymes involved in mitochondrial oxidative phosphorylation (OXPHOS) forms a key part of diagnostic ..

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

Rocio Rius, Mark J Cowley, Lisa Riley, Clare Puttick, David R Thorburn, John Christodoulou

Journal article  |  2019  |  Genetics in Medicine

PURPOSE: A recent report has raised the possibility of biparental mitochondrial DNA (mtDNA) inheritance, which could lead to conce..

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

Lauren S Akesson, Stefanie Eggers, Clare J Love, Belinda Chong, Emma I Krzesinski, Natasha J Brown, Tiong Y Tan, Christopher M Richmond, David R Thorburn, John Christodoulou, Matthew F Hunter, Sebastian Lunke, Zornitza Stark

Journal article  |  2019  |  European Journal of Human Genetics

Rapid genomic testing is a valuable new diagnostic tool for acutely unwell infants, however exome sequencing does not deliver clin..

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

Yilin Kang, Alexander J Anderson, Thomas Daniel Jackson, Catherine S Palmer, David P De Souza, Kenji M Fujihara, Tegan Stait, Ann E Frazier, Nicholas J Clemons, Deidreia Tull, David R Thorburn, Malcolm J McConville, Michael T Ryan, David A Stroud, Diana Stojanovski

Journal article  |  2019  |  eLife

Human Tim8a and Tim8b are members of an intermembrane space chaperone network, known as the small TIM family. Mutations in TIMM8A ..

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

Rocio Rius, Nicole J Van Bergen, Alison G Compton, Lisa G Riley, Maina P Kava, Shanti Balasubramaniam, David J Amor, Miriam Fanjul-Fernandez, Mark J Cowley, Michael C Fahey, Mary K Koenig, Gregory M Enns, Simon Sadedin, Meredith J Wilson, Tiong Y Tan, David R Thorburn, John Christodoulou

Journal article  |  2019  |  Journal of Clinical Medicine

PNPT1 (PNPase-polynucleotide phosphorylase) is involved in multiple RNA processing functions in the mitochondria. Bi-allelic patho..

Rapid mitochondrial genome (mtDNA) sequencing: facilitating rapid diagnosis of mitochondrial diseases in paediatric acute care

LS Akesson, S Eggers, CJ Love, B Chong, MF Hunter, EI Krzesinski, NJ Brown, TY Tan, CM Richmond, DR Thorburn, J Christodoulou, Z Stark, S Lunke

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Functional consequences of bi-allelic PNPT1 variants associated with multisystemic disease

R Rius, LG Riley, NJ Van Bergen, AG Compton, DJ Amor, M Kava, S Balasubramaniam, M Fanjul-Fernandez, M Cowley, M Fahey, TY Tan, DR Thorburn, J Christodoulou

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

NAXDmutations cause a novel neurodegenerative disorder exacerbated by febrile illnesses

NJ Van Bergen, Y Guo, J Rankin, N Paczia, J Becker-Kettern, LS Kremer, A Pyle, J Conrotte, CJ Ellaway, P Procopis, K Prelog, T Homfray, J Baptista, E Baple, M Wakeling, S Massey, DP Kay, A Shukla, KM Girisha, LES Lewis, et al.

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Biallelic mutations in MRPS34 lead to instability of the small mitoribosomal subunit and Leigh syndrome

NJ Lake, BD Webb, DA Stroud, TR Richman, B Ruzzenente, AG Compton, HS Mountford, J Pulman, C Zangarelli, M Rio, N Bodaert, Z Assouline, MD Sherpa, EE Schadt, SM Houten, J Byrnes, EM McCormick, Z Zolkipli-Cunningham, K Haude, Z Zhang, et al.

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Next generation sequencing (NGS) for mitochondrial respiratory chain disorders (MRCD): new genes, cautionary tales and lessons learnt

LG Riley, MJ Cowley, V Gayevskiy, T Roscioli, S Balasubramaniam, DR Thorburn, M Bahlo, CM Sue, D Coman, M Kava, K Bhattacharya, CJ Ellaway, J Christodoulou

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

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

Nicole J Lake, Luke E Formosa, David A Stroud, Michael T Ryan, Sarah E Calvo, Vamsi K Mootha, Bharti Morar, Peter G Procopis, John Christodoulou, Alison G Compton, David R Thorburn

Journal article  |  2019  |  Human Mutation

Leigh syndrome is a mitochondrial disease caused by pathogenic variants in over 85 genes. Whole exome sequencing of a patient with..

Biallelic mutations in MRPS34 lead to instability of the small mitoribosomal subunit and Leigh syndrome

NJ Lake, BD Webb, DA Stroud, TR Richman, B Ruzzenente, AG Compton, HS Mountford, J Pulman, C Zangarelli, M Rio, N Bodaert, Z Assouline, MD Sherpa, EE Schadt, SM Houten, J Byrnes, EM McCormick, Z Zolkipli-Cunningham, K Haude, Z Zhang, et al.

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

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

Ann E Frazier, David R Thorburn, Alison G Compton

Journal article  |  2019  |  Journal of Biological Chemistry

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

AJ Newson, S de Lacey, DK Dowling, S Murray, CM Sue, DR Thorburn, L Gillam, C Degeling

Journal article  |  2019  |  Human Reproduction

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

Hannah Hayhurst, Irenaeus FM de Coo, Dorota Piekutowska-Abramczuk, Charlotte L Alston, Sunil Sharma, Kyle Thompson, Rocio Rius, Langping He, Sila Hopton, Rafal Ploski, Elzbieta Ciara, Nicole J Lake, Alison G Compton, Martin B Delatycki, Aad Verrips, Penelope E Bonnen, Simon A Jones, Andrew A Morris, David Shakespeare, John Christodoulou, et al.

Journal article  |  2019  |  Annals of Clinical and Translational Neurology

Diagnosis of 'possible' mitochondrial disease: an existential crisis

Sumit Parikh, Amel Karaa, Amy Goldstein, Enrico Silvio Bertini, Patrick F Chinnery, John Christodoulou, Bruce H Cohen, Ryan L Davis, Marni J Falk, Carl Fratter, Rita Horvath, Mary Kay Koenig, Michaelangelo Mancuso, Shana McCormack, Elizabeth M McCormick, Robert McFarland, Victoria Nesbitt, Manuel Schiff, Hannah Steele, Silvia Stockler, et al.

Journal article  |  2019  |  Journal of Medical Genetics

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

Nicole J Van Bergen, Yiran Guo, Julia Rankin, Nicole Paczia, Julia Becker-Kettern, Laura S Kremer, Angela Pyle, Jean-Francois Conrotte, Carolyn Ellaway, Peter Procopis, Kristina Prelog, Tessa Homfray, Julia Baptista, Emma Baple, Matthew Wakeling, Sean Massey, Daniel P Kay, Anju Shukla, Katta M Girisha, Leslie ES Lewis, et al.

Journal article  |  2019  |  Brain

Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations.

CA Stutterd, NJ Lake, H Peters, PJ Lockhart, RJ Taft, MS van der Knaap, A Vanderver, DR Thorburn, C Simons, RJ Leventer

Journal article  |  2019  |  JIMD reports

AIM: To identify the genetic aetiology of a distinct leukoencephalopathy causing acute neurological regression in infancy with app..

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

Rocio Rius, Lisa G Riley, Yiran Guo, Minal Menezes, Alison G Compton, Nicole J Van Bergen, Velimir Gayevskiy, Mark J Cowley, Beryl B Cummings, Louisa Adams, Carolyn Ellaway, David R Thorburn, Hakon Hakonarson, John Christodoulou

Journal article  |  2019  |  Molecular Genetics and Metabolism

Mitochondrial dysfunction in diabetic kidney disease

Josephine M Forbes, David R Thorburn

Journal article  |  2018  |  Nature Reviews Nephrology

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

Jibran A Wali, Sandra Galic, Christina YR Tan, Esteban N Gurzov, Ann E Frazier, Timothy Connor, Jingjing Ge, Evan G Pappas, David Stroud, L Chitra Varanasi, Claudia Selck, Michael T Ryan, David R Thorburn, Bruce E Kemp, Balasubramanian Krishnamurthy, Thomas WH Kay, Sean L Mcgee, Helen E Thomas

Journal article  |  2018  |  Cell Death & Differentiation

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

Jibran A Wali, Sandra Galic, Christina Yr Tan, Esteban N Gurzov, Ann E Frazier, Timothy Connor, Jingjing Ge, Evan G Pappas, David Stroud, L Chitra Varanasi, Claudia Selck, Michael T Ryan, David R Thorburn, Bruce E Kemp, Balasubramanian Krishnamurthy, Thomas Wh Kay, Sean L McGee, Helen E Thomas

Journal article  |  2018  |  Cell death and differentiation

BCL-2 proteins are known to engage each other to determine the fate of a cell after a death stimulus. However, their evolutionary ..

Cytosolic Recognition of RNA Drives the Immune Response to Heterologous Erythrocytes

Claudia Loetsch, Joanna Warren, Adrienne Laskowski, Rodrigo Vazquez-Lombardi, Christoph Jandl, David B Langley, Daniel Christ, David R Thorburn, David K Ryugo, Jonathan Sprent, Marcel Batten, Cecile King

Journal article  |  2017  |  Cell Reports

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

Ann E Frazier, Ian J Holt, Antonella Spinazzola, David R Thorburn

Journal article  |  2017  |  Brain

Mitochondrial DNA-Associated Leigh Syndrome and NARP

David R Thorburn, Joyeeta Rahman, Shamima Rahman

Journal article  |  2017

CLINICAL CHARACTERISTICS:Mitochondrial DNA (mtDNA)-associated Leigh syndrome and NARP (neurogenic muscle weakness, ataxia, and ret..

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

Nicole J Lake, Bryn D Webb, David A Stroud, Tara R Richman, Benedetta Ruzzenente, Alison G Compton, Hayley S Mountford, Juliette Pulman, Coralie Zangarelli, Marlene Rio, Nathalie Bodaert, Zahra Assouline, Mingma D Sherpa, Eric E Schadt, Sander M Houten, James Byrnes, Elizabeth M McCormick, Zarazuela Zolkipli-Cunningham, Katrina Haude, Zhancheng Zhang, et al.

Journal article  |  2017  |  The American Journal of Human Genetics

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

Yilin Kang, David A Stroud, Michael J Baker, David P De Souza, Ann E Frazier, Michael Liem, Dedreia Tull, Suresh Mathivanan, Malcolm J McConville, David R Thorburn, Michael T Ryan, Diana Stojanovski

Journal article  |  2017  |  Molecular Cell

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

Michael Nafisinia, Lisa G Riley, Wendy A Gold, Kaustuv Bhattacharya, Carolyn R Broderick, David R Thorburn, Cas Simons, John Christodoulou

Journal article  |  2017  |  PLOS ONE

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

Radha Desai, Ann E Frazier, Romina Durigon, Harshil Patel, Aleck W Jones, Ilaria Dalla Rosa, Nicole J Lake, Alison G Compton, Hayley S Mountford, Elena J Tucker, Alice LR Mitchell, Deborah Jackson, Abdul Sesay, Miriam Di Re, Lambert P van den Heuvel, Derek Burke, David Francis, Sebastian Lunke, George McGillivray, Simone Mandelstam, et al.

Journal article  |  2017  |  Brain

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

Garrett Z Ng, Bi-Xia Ke, Adrienne Laskowski, David R Thorburn, Philip Sutton

Journal article  |  2017  |  Helicobacter

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

Lisa G Riley, Mark J Cowley, Velimir Gayevskiy, Tony Roscioli, David R Thorburn, Kristina Prelog, Melanie Bahlo, Carolyn M Sue, Shanti Balasubramaniam, John Christodoulou

Journal article  |  2017  |  Journal of Inherited Metabolic Disease

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

Michael Nafisinia, Yiran Guo, Xiao Dang, Jiankang Li, Yulan Chen, Jianguo Zhang, Nicole J Lake, Wendy A Gold, Lisa G Riley, David R Thorburn, Brendan Keating, Xun Xu, Hakon Hakonarson, John Christodoulou

Journal article  |  2017  |  JIMD reports

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

Ahmad Alodaib, Nara Sobreira, Wendy A Gold, Lisa G Riley, Nicole J Van Bergen, Meredith J Wilson, Bruce Bennetts, David R Thorburn, Corinne Boehm, John Christodoulou

Journal article  |  2017  |  European Journal of Human Genetics

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

Shanti Balasubramaniam, B Lewis, DM Mock, HM Said, M Tarailo-Graovac, A Mattman, CD van Karnebeek, DR Thorburn, RJ Rodenburg, J Christodoulou

Journal article  |  2017  |  JIMD reports

Erratum: Leigh-like syndrome due to homoplasmic m.8993t>g variant with hypocitrullinemia and unusual biochemical features suggestive of multiple carboxylase deficiency (MCD)(JIMD Reports, (2017), 33, 99-107, 10.1007/8904_2016_559)

S Balasubramaniam, B Lewis, DM Mock, HM Said, M Tarailo-Graovac, A Mattman, CD van Karnebeek, DR Thorburn, RJ Rodenburg, J Christodoulou

Book  |  2017  |  JIMD Reports

Mitochondrial diseases

Grainne S Gorman, Patrick F Chinnery, Salvatore DiMauro, Michio Hirano, Yasutoshi Koga, Robert McFarland, Anu Suomalainen, David R Thorburn, Massimo Zeviani, Douglass M Turnbull

Journal article  |  2016  |  Nature Reviews Disease Primers

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

David A Stroud, Elliot E Surgenor, Luke E Formosa, Boris Reljic, Ann E Frazier, Marris G Dibley, Laura D Osellame, Tegan Stait, Traude H Beilharz, David R Thorburn, Agus Salim, Michael T Ryan

Journal article  |  2016  |  Nature

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

Charlotte L Alston, Caoimhe Howard, Monika Olahova, Steven A Hardy, Langping He, Philip G Murray, Siobhan O'Sullivan, Gary Doherty, Julian PH Shield, Iain P Hargreaves, Ardeshir A Monavari, Ina Knerr, Peter McCarthy, Andrew AM Morris, David R Thorburn, Holger Prokisch, Peter E Clayton, Robert McFarland, Joanne Hughes, Ellen Crushell, et al.

Journal article  |  2016  |  Journal of Medical Genetics

Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease

Manoj P Menezes, Shamima Rahman, Kaustuv Bhattacharya, Damian Clark, John Christodoulou, Carolyn Ellaway, Michelle Farrar, Matthew Pitt, Hugo Sampaio, Tyson L Ware, Yehani Wedatilake, David R Thorburn, Monique M Ryan, Robert Ouvrier

Journal article  |  2016  |  Mitochondrion

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

Charlotte L Alston, Alison G Compton, Luke E Formosa, Valentina Strecker, Monika Olahova, Tobias B Haack, Joel Smet, Katrien Stouffs, Peter Diakumis, Elzbieta Ciara, David Cassiman, Nadine Romain, John W Yarham, Langping He, Boel De Paepe, Arnaud V Vanlander, Sara Seneca, Rene G Feichtinger, Rafal Poski, Dariusz Rokicki, et al.

Journal article  |  2016  |  The American Journal of Human Genetics

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

Melinda T Coughlan, Nguyen Tuong-Vi, Sally A Penfold, Gavin C Higgins, Vicki Thallas-Bonke, Sih Min Tan, Nicole J Van Bergen, Karly C Sourris, Brooke E Harcourt, David R Thorburn, Ian A Trounce, Mark E Cooper, Josephine M Forbes

Journal article  |  2016  |  Clinical Science

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

Melinda T Coughlan, Gavin C Higgins, Nguyen Tuong-Vi, Sally A Penfold, Vicki Thallas-Bonke, Sih Mm Tan, Georg Ramm, Nicole J Van Bergen, Darren C Henstridge, Karly C Sourris, Brooke E Harcourt, Ian A Trounce, Portia M Robb, Adrienne Laskowski, Sean L McGee, Amanda J Genders, Ken Walder, Brian G Drew, Paul Gregorevic, Hongwei Qian, et al.

Journal article  |  2016  |  Diabetes

Deletion of the Complex I Subunit NDUFS4 Adversely Modulates Cellular Differentiation

Jacqueline Johnson, William Lee, Ann E Frazier, Vijesh Vaghjiani, Adrienne Laskowski, Alexandra L Rodriguez, Gael L Cagnone, Matthew McKenzie, Stefan J White, David R Nisbet, David R Thorburn, Justin C St John

Journal article  |  2016  |  Stem Cells and Development

Leigh syndrome: One disorder, more than 75 monogenic causes

Nicole J Lake, Alison G Compton, Shamima Rahman, David R Thorburn

Journal article  |  2016  |  Annals of Neurology

MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria

Ilaria Dalla Rosa, Yolanda Camara, Romina Durigon, Chloe F Moss, Sara Vidoni, Gokhan Akman, Lilian Hunt, Mark A Johnson, Sarah Grocott, Liya Wang, David R Thorburn, Michio Hirano, Joanna Poulton, Robert W Taylor, Greg Elgar, Ramon Marti, Peter Voshol, Ian J Holt, Antonella Spinazzola

Journal article  |  2016  |  PLOS Genetics

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

Lisa G Riley, Joelle Rudinger-Thirion, Klaus Schmitz-Abe, David R Thorburn, Ryan L Davis, Juliana Teo, Susan Arbuckle, Sandra T Cooper, Dean R Campagna, Magali Frugier, Kyriacos Markianos, Carolyn M Sue, Mark D Fleming, John Christodoulou

Journal article  |  2016  |  JIMD reports

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

Rachael M Duff, Anne-Marie J Shearwood, Judith Ermer, Giulia Rossetti, Rebecca Gooding, Tara R Richman, Shanti Balasubramaniam, David R Thorburn, Oliver Rackham, Phillipa J Lamont, Aleksandra Filipovska

Journal article  |  2015  |  Mitochondrion

Nuclear Gene-Encoded Leigh Syndrome Overview

Shamima Rahman, David Thorburn

Journal article  |  2015

CLINICAL CHARACTERISTICS:Leigh syndrome (or subacute necrotizing encephalomyelopathy) is characterized by decompensation (often wi..

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

David A Stroud, Megan J Maher, Caroline Lindau, F-Nora Voegtle, Ann E Frazier, Elliot Surgenor, Hayley Mountford, Abeer P Singh, Matteo Bonas, Silke Oeljeklaus, Bettina Warscheid, Chris Meisinger, David R Thorburn, Michael T Ryan

Journal article  |  2015  |  Human Molecular Genetics

Deficiency in Apoptosis Inducing Factor Recapitulates Diabetic Nephropathy via Aberrant Mitochondrial Homeostasis

Melinda T Coughlan, Gavin C Higgins, Tuong-Vi Nguyen, Sally A Penfold, Vicki Thallas-Bonke, Sih Min Tan, Georg Ramm, Nicole J Van Bergen, Darren C Henstridge, Ian A Trounce, Karly C Sourris, Brooke E Harcourt, Portia M Robb, Adrienne Laskowski, Sean L Mcgee, Ken Walder, Paul Gregorevic, Hongwei Qian, Merlin C Thomas, Brian G Drew, et al.

Conference Proceedings  |  2015  |  DIABETES

Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: A case report and literature review

Dylan A Mordaunt, Alexandra Jolley, Shanti Balasubramaniam, David R Thorburn, Hayley S Mountford, Alison G Compton, Jillian Nicholl, Nicholas Manton, Damian Clark, Drago Bratkovic, Kathryn Friend, Sui Yu

Journal article  |  2015  |  American Journal of Medical Genetics Part A

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

Luke E Formosa, Masakazu Mimaki, Ann E Frazier, Matthew McKenzie, Tegan L Stait, David R Thorburn, David A Stroud, Michael T Ryan

Journal article  |  2015  |  Human Molecular Genetics

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

Minal J Menezes, Yiran Guo, Jianguo Zhang, Lisa G Riley, Sandra T Cooper, David R Thorburn, Jiankang Li, Daoyuan Dong, Zhijun Li, Joseph Glessner, Ryan L Davis, Carolyn M Sue, Stephen I Alexander, Susan Arbuckle, Paul Kirwan, Brendan J Keating, Xun Xu, Hakon Hakonarson, John Christodoulou

Journal article  |  2015  |  Human Molecular Genetics

IGF2BP2/IMP2-Deficient Mice Resist Obesity through Enhanced Translation of Ucp1 mRNA and Other mRNAs Encoding Mitochondrial Proteins

Ning Dai, Liping Zhao, Diedra Wrighting, Dana Kraemer, Amit Majithia, Yanqun Wang, Valentin Cracan, Diego Borges-Rivera, Vamsi K Mootha, Matthias Nahrendorf, David R Thorburn, Liliana Minichiello, David Altshuler, Joseph Avruch

Journal article  |  2015  |  Cell Metabolism

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect

Yiran Guo, Minal J Menezes, Manoj P Menezes, Jinlong Liang, Dong Li, Lisa G Riley, Nigel F Clarke, P Ian Andrews, Lifeng Tian, Richard Webster, Fengxiang Wang, Xuanzhu Liu, Yulan Shen, David R Thorburn, Brendan J Keating, Andrew Engel, Hakon Hakonarson, John Christodoulou, Xun Xu

Journal article  |  2015  |  Neuromuscular Disorders

Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

Marni J Falk, Lishuang Shen, Michael Gonzalez, Jeremy Leipzig, Marie T Lott, Alphons PM Stassen, Maria Angela Diroma, Daniel Navarro-Gomez, Philip Yeske, Renkui Bai, Richard G Boles, Virginia Brilhante, David Ralph, Jeana T DaRe, Robert Shelton, Sharon F Terry, Zhe Zhang, William C Copeland, Mannis van Oven, Holger Prokisch, et al.

Journal article  |  2015  |  Molecular Genetics and Metabolism

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

Liliya Euro, Svetlana Konovalova, Jorge Asin-Cayuela, Mar Tulinius, Helen Griffin, Rita Horvath, Robert W Taylor, Patrick F Chinnery, Ulrike Schara, David R Thorburn, Anu Suomalainen, Joseph Chihade, Henna Tyynismaa

Journal article  |  2015  |  Frontiers in Genetics

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

DJ Wright, T Renoir, ZM Smith, AE Frazier, PS Francis, DR Thorburn, SL McGee, AJ Hannan, LJ Gray

Journal article  |  2015  |  Translational Psychiatry

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

Marcus Brecht, Malcolm Richardson, Ajay Taranath, Scott Grist, David Thorburn, Drago Bratkovic

Journal article  |  2015  |  JIMD reports

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

Sanne van Dongen, Ruth M Brown, Garry K Brown, David R Thorburn, Avihu Boneh

Book Chapter  |  2015  |  JIMD Reports

Resveratrol can correct respiratory chain defects in patients' fibroblasts through the ER and ERR signaling

A Lopes-Costa, C Le Bachelier, L Mathieu, A Rotig, A Boneh, P De Lonlay, MA Tarnopolsky, DR Thorburn, J Bastin, F Djouadi

Conference Proceedings  |  2014  |  FEBS JOURNAL

Rapid Identification of a Novel Complex I MT-ND3 m.10134C>A Mutation in a Leigh Syndrome Patient

David K Miller, Minal J Menezes, Cas Simons, Lisa G Riley, Sandra T Cooper, Sean M Grimmond, David R Thorburn, John Christodoulou, Ryan J Taft

Journal article  |  2014  |  PLoS ONE

Functional Characterization of Friedreich Ataxia iPS-Derived Neuronal Progenitors and Their Integration in the Adult Brain

Matthew J Bird, Karina Needham, Ann E Frazier, Jorien van Rooijen, Jessie Leung, Shelley Hough, Mark Denham, Matthew E Thornton, Clare L Parish, Bryony A Nayagam, Martin Pera, David R Thorburn, Lachlan H Thompson, Mirella Dottori

Journal article  |  2014  |  PLoS One

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

Alexandra Lopes Costa, Carole Le Bachelier, Lise Mathieu, Agnes Rotig, Avihu Boneh, Pascale De Lonlay, Mark A Tarnopolsky, David R Thorburn, Jean Bastin, Fatima Djouadi

Journal article  |  2014  |  Human Molecular Genetics

Modelling biochemical features of mitochondrial neuropathology

Matthew J Bird, David R Thorburn, Ann E Frazier

Journal article  |  2014  |  Biochimica et Biophysica Acta - General Subjects

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

JC Komen, DR Thorburn

Journal article  |  2014  |  British Journal of Pharmacology

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

Taro Yamazaki, Kei Murayama, Alison G Compton, Canny Sugiana, Hiroko Harashima, Shin Amemiya, Masami Ajima, Tomoko Tsuruoka, Ayako Fujinami, Emi Kawachi, Yoshiko Kurashige, Kenshi Matsushita, Hiroshi Wakiguchi, Masato Mori, Hiroyasu Iwasa, Yasushi Okazaki, David R Thorburn, Akira Ohtake

Journal article  |  2014  |  Pediatrics International

A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

Sze Chern Lim, Katherine R Smith, David A Stroud, Alison G Compton, Elena J Tucker, Ayan Dasvarma, Luke C Gandolfo, Justine E Marum, Matthew McKenzie, Heidi L Peters, David Mowat, Peter G Procopis, Bridget Wilcken, John Christodoulou, Garry K Brown, Michael T Ryan, Melanie Bahlo, David R Thorburn

Journal article  |  2014  |  American Journal of Human Genetics

Neuronal and astrocyte dysfunction diverges from embryonic fibroblasts in the Ndufs4 fky fky mouse

Matthew J Bird, Xiaonan W Wijeyeratne, Jasper C Komen, Adrienne Laskowski, Michael T Ryan, David R Thorburn, Ann E Frazier

Journal article  |  2014  |  Bioscience Reports

Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression

Elena J Tucker, Bas FJ Wanschers, Radek Szklarczyk, Hayley S Mountford, Xiaonan W Wijeyeratne, Mariel AM van den Brand, Anne M Leenders, Richard J Rodenburg, Boris Reljic, Alison G Compton, Ann E Frazier, Damien L Bruno, John Christodoulou, Hitoshi Endo, Michael T Ryan, Leo G Nijtmans, Martijn A Huynen, David R Thorburn

Journal article  |  2013  |  PLoS Genetics

Fumarase Deficiency in Dichorionic Diamniotic Twins

Simone Tregoning, Wendy Salter, David R Thorburn, Miranda Durkie, Maria Panayi, Joyce Y Wu, Aaron Easterbrook, David J Coman

Journal article  |  2013  |  Twin Research and Human Genetics

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

Sze Chern Lim, Martin Friemel, Justine E Marum, Elena J Tucker, Damien L Bruno, Lisa G Riley, John Christodoulou, Edwin P Kirk, Avihu Boneh, Christine M DeGennaro, Michael Springer, Vamsi K Mootha, Tracey A Rouault, Silke Leimkuehler, David R Thorburn, Alison G Compton

Journal article  |  2013  |  Human Molecular Genetics

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

Saskia B Wortmann, Leo AJ Kluijtmans, Richard J Rodenburg, Jorn Oliver Sass, Jessica Nouws, Edwin P van Kaauwen, Tjitske Kleefstra, Lisbeth Tranebjaerg, Maaike C de Vries, Pirjo Isohanni, Katharina Walter, Fowzan S Alkuraya, Izelle Smuts, Carolus J Reinecke, Francois H van der Westhuizen, David Thorburn, Jan AM Smeitink, Eva Morava, Ron A Wevers

Journal article  |  2013  |  Journal of Inherited Metabolic Disease

Mutations in CYC1, Encoding Cytochrome c(1) Subunit of Respiratory Chain Complex III, Cause Insulin-Responsive Hyperglycemia

Pauline Gaignard, Minal Menezes, Manuel Schiff, Aurelien Bayot, Malgorzata Rak, Helene Ogler de Baulny, Chen-Hsien Su, Mylene Gilleron, Anne Lombes, Heni Abida, Alexander Tzagoloff, Lisa Riley, Sandra T Cooper, Kym Mina, Padma Sivadorai, Mark R Davis, Richard JN Allcock, Nina Kresoje, Nigel G Laing, David R Thorburn, et al.

Journal article  |  2013  |  American Journal of Human Genetics

Deficiency in Mitochondrial Complex I Activity Due to Ndufs6 Gene Trap Insertion Induces Renal Disease

Josephine M Forbes, Bi-Xia Ke, Nguyen Tuong-Vi, Darren C Henstridge, Sally A Penfold, Adrienne Laskowski, Karly C Sourris, Lukas N Groschner, Mark E Cooper, David R Thorburn, Melinda T Coughlan

Journal article  |  2013  |  Antioxidants and Redox Signaling

SURF1 deficiency: a multi-centre natural history study

Yehani Wedatilake, Ruth M Brown, Robert McFarland, Joy Yaplito-Lee, Andrew AM Morris, Mike Champion, Phillip E Jardine, Antonia Clarke, David R Thorburn, Robert W Taylor, John M Land, Katharine Forrest, Angus Dobbie, Louise Simmons, Erlend T Aasheim, David Ketteridge, Donncha Hanrahan, Anupam Chakrapani, Garry K Brown, Shamima Rahman

Journal article  |  2013  |  Orphanet Journal of Rare Diseases

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

Shamima Rahman, David R Thorburn

Journal article  |  2013  |  Neuromuscular Disorders

Targeted exome sequencing of suspected mitochondrial disorders

Daniel S Lieber, Sarah E Calvo, Kristy Shanahan, Nancy G Slate, Shangtao Liu, Steven G Hershman, Nina B Gold, Brad A Chapman, David R Thorburn, Gerard T Berry, Jeremy D Schmahmann, Mark L Borowsky, David M Mueller, Katherine B Sims, Vamsi K Mootha

Journal article  |  2013  |  Neurology

Mitochondrial dysfunction in a novel form of autosomal recessive ataxia

Nor Azian Abdul Murad, Jason K Cullen, Matthew McKenzie, Michael T Ryan, David Thorburn, Nuri Gueven, Junya Kobayashi, Geoff Birrell, Jian Yang, Thilo Doerk, Olivier Becherel, Padraic Grattan-Smith, Martin F Lavin

Journal article  |  2013  |  Mitochondrion

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

Joanna L Elson, Mary G Sweeney, Vincent Procaccio, John W Yarham, Antonio Salas, Qing-Peng Kong, Francois H van der Westhuizen, Robert DS Pitceathly, David R Thorburn, Marie T Lott, Douglas C Wallace, Robert W Taylor, Robert McFarland

Journal article  |  2012  |  Human Mutation

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

Dillon W Leong, Jasper C Komen, Chelsee A Hewitt, Estelle Arnaud, Matthew McKenzie, Belinda Phipson, Melanie Bahlo, Adrienne Laskowski, Sarah A Kinkel, Gayle M Davey, William R Heath, Anne K Voss, Rene P Zahedi, James J Pitt, Roman Chrast, Albert Sickmann, Michael T Ryan, Gordon K Smyth, David R Thorburn, Hamish S Scott

Journal article  |  2012  |  Journal of Biological Chemistry

Understanding mitochondrial complex I assembly in health and disease

Masakazu Mimaki, Xiaonan Wang, Matthew McKenzie, David R Thorburn, Michael T Ryan

Journal article  |  2012  |  Biochimica et Biophysica Acta. Bioenergetics

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

P McKelvie, R Marotta, DR Thorburn, J Chin, S Punchihewa, S Collins

Journal article  |  2012  |  Neuromuscular Disorders

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

Bi-Xia Ke, Salvatore Pepe, David R Grubb, Jasper C Komen, Adrienne Laskowski, Felicity A Rodda, Belinda M Hardman, James J Pitt, Michael T Ryan, Michael Lazarou, Jane Koleff, Michael MH Cheung, Joseph J Smolich, David R Thorburn

Journal article  |  2012  |  Proceedings of the National Academy of Sciences of the United States of America

SYSTEMATIC REVIEW OF CONTROLLED TRIALS IN THE TREATMENT OF MITOCHONDRIAL DISORDERS

G Pfeffer, D Thorburn, D Turnbull, K Majamaa, PF Chinnery

Conference Proceedings  |  2012  |  Journal of Neurology, Neurosurgery & Psychiatry

Late-adult onset Leigh syndrome

Penelope McKelvie, Bernard Infeld, Rosetta Marotta, Judy Chin, David Thorburn, Steven Collins

Journal article  |  2012  |  Journal of Clinical Neuroscience

Next-Generation Sequencing in Molecular Diagnosis: NUBPL Mutations Highlight the Challenges of Variant Detection and Interpretation

Elena J Tucker, Masakazu Mimaki, Alison G Compton, Matthew McKenzie, Michael T Ryan, David R Thorburn

Journal article  |  2012  |  Human Mutation

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

Sarah E Calvo, Alison G Compton, Steven G Hershman, Sze Chern Lim, Daniel S Lieber, Elena J Tucker, Adrienne Laskowski, Caterina Garone, Shangtao Liu, David B Jaffe, John Christodoulou, Janice M Fletcher, Damien L Bruno, Jack Goldblatt, Salvatore DiMauro, David R Thorburn, Vamsi K Mootha

Journal article  |  2012  |  Science Translational Medicine

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

P McKelvie, R Marotta, DR Thorburn, J Chin, S Punchihewa, S Collins

Journal article  |  2012  |  Neuromuscular Disorders

Treatment for mitochondrial disorders

Gerald Pfeffer, Kari Majamaa, Douglass M Turnbull, David Thorburn, Patrick F Chinnery

Journal article  |  2012  |  Cochrane Database of Systematic Reviews

Mitochondrial Respiratory Chain Hepatopathies: Role of Liver Transplantation. A Case Series of Five Patients

Elisabeth De Greef, John Christodoulou, Ian E Alexander, Albert Shun, Edward V O'Loughlin, David R Thorburn, Vicki Jermyn, Michael O Stormon

Journal article  |  2012  |  JIMD reports

Biochemical Analyses of the Electron Transport Chain Complexes by Spectrophotometry

Ann E Frazier, David R Thorburn

Book Chapter  |  2012  |  Methods in Molecular Biology

Modeling mitochondrial dysfunction in neurodegenerative disease

JC Komen, DR Thorburn

Book Chapter  |  2012

Mutations in the Gene Encoding C8orf38 Block Complex I Assembly by Inhibiting Production of the Mitochondria-Encoded Subunit ND1

Matthew McKenzie, Elena J Tucker, Alison G Compton, Michael Lazarou, Christa George, David R Thorburn, Michael T Ryan

Journal article  |  2011  |  Journal of Molecular Biology

Alpers Syndrome With Mutations in POLG: Clinical and Investigative Features

Matthew F Hunter, Heidi Peters, Renato Salemi, David Thorburn, Mark T Mackay

Journal article  |  2011  |  Pediatric Neurology

Childhood mitochondrial neuropathies: Clinical, electrophysiological and histopathological characteristics

MP Menezes, MM Ryan, D Thorburn, JC Christodoulou, KN North, RA Ouvrier

Conference Proceedings  |  2011  |  Neuromuscular Disorders

Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation

Elena J Tucker, Steven G Hershman, Caroline Koehrer, Casey A Belcher-Timme, Jinal Patel, Olga A Goldberger, John Christodoulou, Jonathon M Silberstein, Matthew McKenzie, Michael T Ryan, Alison G Compton, Jacob D Jaffe, Steven A Carr, Sarah E Calvo, Uttam L RajBhandary, David R Thorburn, Vamsi K Mootha

Journal article  |  2011  |  Cell Metabolism

The Molecular Basis of Human Complex I Deficiency

Elena J Tucker, Alison G Compton, Sarah E Calvo, David R Thorburn

Journal article  |  2011  |  IUBMB Life

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

Xiulian Chen, David R Thorburn, Lee-Jun Wong, Georgirene D Vladutiu, Richard H Haas, Thuy Le, Charles Hoppel, Margaret Sedensky, Philip Morgan, Si Houn Hahn

Journal article  |  2011  |  Genetics in Medicine

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

Helen Swalwell, Denise M Kirby, Emma L Blakely, Anna Mitchell, Renato Salemi, Canny Sugiana, Alison G Compton, Elena J Tucker, Xia Ke, Phillipa J Lamont, Douglass M Turnbull, Robert McFarland, Robert W Taylor, David R Thorburn

Journal article  |  2011  |  European Journal of Human Genetics

Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism

Danuta Z Loesch, David E Godler, Andrew Evans, Quang M Bui, Freya Gehling, Katya E Kotschet, Nicholas Trost, Elsdon Storey, Paige Stimpson, Glynda Kinsella, David Francis, David R Thorburn, Alison Venn, Howard R Slater, Malcolm Horne

Journal article  |  2011  |  Genetics in Medicine

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

RW Taylor, H Swalwell, DM Kirby, EL Blakely, A Mitchell, R Salemi, C Sugiana, AG Compton, EJ Tucker, B-X Ke, PJ Lamont, DM Turnbull, R McFarland, DR Thorburn

Conference Proceedings  |  2011  |  Neuromuscular Disorders

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

Alison G Compton, Christopher Troedson, Meredith Wilson, Peter G Procopis, Fang-Yuan Li, Ellen K Brundage, Taro Yamazaki, David R Thorburn, Lee-Jun C Wong

Journal article  |  2011  |  Mitochondrion

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

Helen AL Tuppen, Vanessa E Hogan, Langping He, Emma L Blakely, Lisa Worgan, Mazhor Al-Dosary, Gabriele Saretzki, Charlotte L Alston, Andrew A Morris, Michael Clarke, Simon Jones, Anita M Devlin, Sahar Mansour, Zofia MA Chrzanowska-Lightowlers, David R Thorburn, Robert McFarland, Robert W Taylor

Journal article  |  2010  |  Brain

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

Sarah E Calvo, Elena J Tucker, Alison G Compton, Denise M Kirby, Gabriel Crawford, Noel P Burtt, Manuel Rivas, Candace Guiducci, Damien L Bruno, Olga A Goldberger, Michelle C Redman, Esko Wiltshire, Callum J Wilson, David Altshuler, Stacey B Gabriel, Mark J Daly, David R Thorburn, Vamsi K Mootha

Journal article  |  2010  |  Nature Genetics

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia-MLASA Syndrome

Lisa G Riley, Sandra Cooper, Peter Hickey, Joelle Rudinger-Thirion, Matthew McKenzie, Alison Compton, Sze Chern Lim, David Thorburn, Michael T Ryan, Richard Giege, Melanie Bahlo, John Christodoulou

Journal article  |  2010  |  American Journal of Human Genetics

Recent Advances in the Genetics of Mitochondrial Encephalopathies

Elena J Tucker, Alison G Compton, David R Thorburn

Journal article  |  2010  |  Current Neurology and Neuroscience Reports

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

Michael Lazarou, Stacey M Smith, David R Thorburn, Michael T Ryan, Matthew McKenzie

Journal article  |  2009  |  FEBS Journal

DIAGNOSES AND MOLECULAR BASES OF MITOCHONDRIAL RESPIRATORY CHAIN DISORDERS IN JAPAN

A Ohtake, K Murayama, T Yamazaki, M Honda, H Harashima, Y Sanayama, T Tsuruoka, M Takayanagi, M Mori, H Iwasa, Y Okazaki, A Compton, MT Ryan, David R Thorburn

Conference Proceedings  |  2009  |  MOLECULAR GENETICS AND METABOLISM

RAGE-induced Cytosolic ROS Promote Mitochondrial Superoxide Generation in Diabetes

Melinda T Coughlan, David R Thorburn, Sally A Penfold, Adrienne Laskowski, Brooke E Harcourt, Karly C Sourris, Adeline LY Tan, Kei Fukami, Vicki Thallas-Bonke, Peter P Nawroth, Michael Brownlee, Angelika Bierhaus, Mark E Cooper, Josephine M Forbes

Journal article  |  2009  |  Journal of the American Society of Nephrology

Intractable secretory diarrhea in a Japanese boy with mitochondrial respiratory chain complex I deficiency

Kei Murayama, Hironori Nagasaka, Tomoko Tsuruoka, Yuko Omata, Hiroshi Horie, Simone Tregoning, David R Thorburn, Masaki Takayanagi, Akira Ohtake

Journal article  |  2009  |  European Journal of Pediatrics

Assembly of mitochondrial complex I and defects in disease

Michael Lazarou, David R Thorburn, Michael T Ryan, Matthew McKenzie

Journal article  |  2009  |  Biochimica et Biophysica Acta - Molecular Cell Research

Mitochondrial Oxidative Phosphorylation Disorders Presenting in Neonates: Clinical Manifestations and Enzymatic and Molecular Diagnoses

Kate Gibson, Jane L Halliday, Denise M Kirby, Joy Yaplito-Lee, David R Thorburn, Avihu Boneh

Journal article  |  2008  |  Pediatrics

Compensatory Growth of Healthy Cardiac Cells in the Presence of Diseased Cells Restores Tissue Homeostasis during Heart Development

Joerg-Detief Drenckhahn, Quenten P Schwarz, Stephen Gray, Adrienne Laskowski, Helen Kiriazis, Ziqiu Mings, Richard P Harvey, Xiao-Jun Du, David R Thorburn, Timothy C Cox

Journal article  |  2008  |  Developmental Cell

Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease

Canny Sugiana, David J Pagliarini, Matthew McKenzie, Denise M Kirby, Renato Salemi, Khaled K Abu-Amero, Hans-Henrik M Dahl, Wendy M Hutchison, Katherine A Vascotto, Stacey M Smith, Robert F Newbold, John Christodoulou, Sarah Calvo, Vamsi K Mootha, Michael T Ryan, David R Thorburn

Journal article  |  2008  |  American Journal of Human Genetics

Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders

Denise M Kirby, David R Thorburn

Journal article  |  2008  |  Twin Research and Human Genetics

A mitochondrial protein compendium elucidates complex I disease biology

David J Pagliarini, Sarah E Calvo, Betty Chang, Sunil A Sheth, Scott B Vafai, Shao-En Ong, Geoffrey A Walford, Canny Sugiana, Avihu Boneh, William K Chen, David E Hill, Marc Vidal, James G Evans, David R Thorburn, Steven A Carr, Vamsi K Mootha

Journal article  |  2008  |  Cell

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

AC Sexton, M Sahhar, DR Thorburn, SA Metcalfe

Journal article  |  2008  |  Journal of Genetic Counseling

This study used in-depth interviews to explore the experiences of parents who were re-contacted with new genetic results many year..

Ophthalmologic presentation of oxidative phosphorylation diseases of childhood

Loreto VT Rose, Nectarios T Rose, James E Elder, David R Thorburn, Avihu Boneh

Journal article  |  2008  |  Pediatric Neurology

Juvenile Alpers disease

Esko Wiltshire, Guido Davidzon, Salvatore DiMauro, Hasan O Akman, Lynette Sadleir, Lindsay Haas, Jane Zuccollo, Alison McEwen, David R Thorburn

Journal article  |  2008  |  Archives of Neurology

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

CJR Dunning, M McKenzie, C Sugiana, M Lazarou, J Silke, A Connelly, JM Fletcher, DM Kirby, DR Thorburn, MT Ryan

Journal article  |  2007  |  EMBO Journal

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

Anna H Hakonen, Guido Davidzon, Renato Salemi, Laurence A Bindoff, Gert Van Goethem, Salvatore DiMauro, David R Thorburn, Anu Suomalainen

Journal article  |  2007  |  European Journal of Human Genetics

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

Michael Lazarou, Matthew McKenzie, Akira Ohtake, David R Thorburn, Michael T Ryan

Journal article  |  2007  |  Molecular and Cellular Biology

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

Matthew McKenzie, Michael Lazarou, David R Thorburn, Michael T Ryan

Journal article  |  2007  |  Analytical Biochemistry

Cardiac manifestations in oxidative phosphorylation disorders of childhood

J Yaplito-Lee, R Weintraub, K Jamsen, CW Chow, DR Thorburn, A Boneh

Journal article  |  2007  |  Journal of Pediatrics

Biochemical assays of respiratory chain complex activity

Denise M Kirby, David R Thorburn, Douglass M Turnbull, Robert W Taylor

Book Chapter  |  2007  |  Methods in Cell Biology

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

Ference J Loupatty, Peter T Clayton, Jos PN Ruiter, Rob Ofman, Lodewijk Ijlst, Garry K Brown, David R Thorburn, Robert A Harris, Marinus Duran, Carlos DeSousa, Steve Krywawych, Simon JR Heales, Ronald JA Wanders

Journal article  |  2007  |  American Journal of Human Genetics

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

Alistair T Pagnamenta, Jan-Willem Taanman, Callum J Wilson, Neil E Anderson, Rosetta Marotta, Andrew J Duncan, Maria Bitner-Glindzicz, Robert W Taylor, Adrienne Laskowski, David R Thorburn, Shamima Rahman

Journal article  |  2006  |  Human Reproduction

Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome

Michiel Adriaan van Werkhoven, David Ross Thorburn, Agi Kyra Gedeon, James Jonathon Pitt

Journal article  |  2006  |  Journal of Lipid Research

Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients

Matthew McKenzie, Michael Lazarou, David R Thorburn, Michael T Ryan

Journal article  |  2006  |  Journal of Molecular Biology

DIABETES-INDUCED ADVANCED GLYCATION INITIATES MITOCHONDRIAL DYSFUNCTION

MT Coughlan, DR Thorburn, A Laskowski, V Thallas-Bonke, J Pete, B Harcourt, ME Cooper, JM Forbes

Journal article  |  2006  |  NEPHROLOGY

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

J Hui, DM Kirby, DR Thorburn, A Boneh

Journal article  |  2006  |  Developmental Medicine and Child Neurology

Treatment for mitochondrial disorders

P Chinnery, K Majamaa, D Turnbull, D Thorburn

Journal article  |  2006  |  Cochrane database of systematic reviews (Online)

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

J Panetta, K Gibson, DM Kirby, DR Thorburn, A Boneh

Journal article  |  2005  |  Neuropediatrics

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

CJ Wilson, M Myer, BA Darlow, T Stanley, G Thomson, ER Baumgartner, DM Krby, DR Thorbum

Journal article  |  2005  |  The Journal of Pediatrics

POLG mutations and Alpers syndrome

G Davidzon, M Mancuso, S Ferraris, C Quinzii, M Hirano, HL Peters, D Kirby, DR Thorburn, S DiMauro

Journal article  |  2005  |  Annals of Neurology

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

F Valianpour, V Mitsakos, D Schlemmer, JA Towbin, JM Taylor, PG Ekert, DR Thorburn, A Munnich, RJA Wanders, PG Barth, FM Vaz

Journal article  |  2005  |  Journal of Lipid Research

New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome

M Mancuso, S Ferraris, J Pancrudo, A Feigenbaum, J Raiman, J Christodoulou, DR Thorburn, S DiMauro

Journal article  |  2005  |  Archives of Neurology

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

A Biggin, R Henke, B Bennetts, DR Thorburn, J Christodoulou

Journal article  |  2005  |  Molecular Genetics and Metabolism

Erratum: (Journal of Neurology, Neurosurgery and Psychiatry (2004) 75 (1204-1205))

M Deschauer, PF Chinnery, S Shanske, S DiMauro, K Majamaa, E Wilichowski, DR Thorburn, S Zierz, AM Schaefer, DM Turnbull, RW Taylor

Journal article  |  2004  |  Journal of Neurology, Neurosurgery & Psychiatry

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

PJ Lamont, DR Thorburn, V Fabian, J Vajsar, C Hawkins, A Saada, H Durling, NG Laing, Y Nevo

Journal article  |  2004  |  Neuropediatrics

Mutations of the mitochondrial ND1 gene as a cause of MELAS

DM Kirby, R McFarland, A Ohtake, C Dunning, MT Ryan, C Wilson, D Ketteridge, DM Turnbull, DR Thorburn, RW Taylor

Journal article  |  2004  |  Journal of Medical Genetics

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

DM Kirby, R Salemi, C Sugiana, A Ohtake, L Parry, KM Bell, EP Kirk, A Boneh, RW Taylor, HHM Dahl, MT Ryan, DR Thorburn

Journal article  |  2004  |  Journal of Clinical Investigation

Risk of developing a mitochondrial DNA deletion disorder

PF Chinnery, S DiMauro, S Shanske, EA Schon, M Zeviani, C Mariotti, F Carrara, A Lombes, P Laforet, H Ogier, M Jaksch, H Lochmuller, R Horvath, M Deschauer, DR Thorburn, LA Bindoff, J Poulton, RW Taylor, JNS Matthews, DM Turnbull

Journal article  |  2004  |  The Lancet

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

M Deschauer, PF Chinnery, AM Schaefer, DM Turnbull, RW Taylor, M Deschauer, S Zierz, S Shanske, S DiMauro, K Majamaa, E Wilichowski, DR Thorburn

Journal article  |  2004  |  Journal of Neurology, Neurosurgery & Psychiatry

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

R McFarland, DM Kirby, KJ Fowler, A Ohtake, MT Ryan, DJ Amor, JM Fletcher, JW Dixon, FA Collins, DM Turnbull, RW Taylor, DR Thorburn

Journal article  |  2004  |  Annals of Neurology

Diverse powerhouses

DR Thorburn

Journal article  |  2004  |  Nature Genetics

Mitochondrial diseases: not so rare after all

DR Thorburn

Journal article  |  2004  |  Internal Medicine Journal

Mitochondrial disorders: Prevalence, myths and advances

DR Thorburn

Journal article  |  2004  |  Journal of Inherited Metabolic Disease

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

PJ Wightman, R Santer, A Ribes, F Dougherty, N McGill, DR Thorburn, DR FitzPatrick

Journal article  |  2003  |  Human Mutation

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

DM Kirby, A Boneh, CW Chow, A Ohtake, MT Ryan, D Thyagarajan, DR Thorburn

Journal article  |  2003  |  Annals of Neurology

Minimum birth prevalence of mitochondrial respiratory chain disorders in children

D Skladal, J Halliday, DR Thorburn

Journal article  |  2003  |  Brain

Diagnostic criteria for respiratory chain disorders in adults and children

FP Bernier, A Boneh, X Dennett, CW Chow, MA Cleary, DR Thorburn

Journal article  |  2002  |  Neurology

Flow cytometry in the study of mitochondrial respiratory chain disorders

K Setterfield, AJ Williams, J Donald, DR Thorburn, DM Kirby, I Trounce, J Christodoulou

Journal article  |  2002  |  Mitochondrion

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

DR Thorburn, HHM Dahl, KK Singh

Journal article  |  2001  |  Mitochondrion

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

A Carr, A Morey, P Mallon, D Williams, DR Thorburn

Journal article  |  2001  |  The Lancet

Diagnosis of mitochondrial disorders: Clinical and biochemical approach

DR Thorburn, J Smeitink

Conference Proceedings  |  2001  |  Journal of Inherited Metabolic Disease

Mitochondrial diseases: Beyond the magic circle

HHM Dahl, DR Thorburn

Journal article  |  2001  |  American Journal of Medical Genetics

Clinical spectrum and diagnosis of mitochondrial disorders

A Munnich, P Rustin

Journal article  |  2001  |  American Journal of Medical Genetics

Mitochondrial disorders: Genetics, counseling, prenatal diagnosis and reproductive options

DR Thorburn, HHM Dahl

Journal article  |  2001  |  American Journal of Medical Genetics

Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain

I Wittig, P Augstein, GK Brown, T Fujii, A Rotig, P Rustin, A Munnich, P Seibel, D Thorburn, B Wissinger, K Tamboom, A Metspalu, E Lamantea, M Zeviani, MS Wehnert

Journal article  |  2001  |  Journal of Inherited Metabolic Disease

Holocarboxylase synthetase deficiency: Urinary metabolites masked by gross ketosis

KH Carpenter, B Wilcken, J Christodoulou, DR Thorburn

Journal article  |  2000  |  Journal of Inherited Metabolic Disease

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

PF Chinnery, DR Thorburn, DC Samuels, SL White, HHM Dahl, DM Turnbull, RN Lightowlers, N Howell

Journal article  |  2000  |  Trends in Genetics

Chronic liver failure and persistent mitochondrial dysfunction 2 years after nucleoside reverse transcriptase inhibitor (NRTI)-induced acute hepatitis and lactic acidemia

A Carr, A Morey, DA Cooper, DR Thorburn

Journal article  |  2000  |  AIDS

The clinical spectrum of cytochrome c deficiency in Leigh syndrome patients with and without mutations in the SURF1 gene.

HHM Dahl, WM Hutchison, A Dasvarma, K Reed, DM Kirby, A Boneh, J Christodoulou, ML Freckmann, B Wilcken, JJ McGill, JL Fletcher, J Van Hove, DR Thorburn

Journal article  |  2000  |  AMERICAN JOURNAL OF HUMAN GENETICS

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

DM Kirby, SG Kahler, ML Freckmann, D Reddihough, DR Thorburn

Journal article  |  2000  |  Annals of Neurology

Practical problems in detecting abnormal mitochondrial function and genomes.

DR Thorburn

Journal article  |  2000  |  Human Reproduction

Mitochondrial respiratory chain dysfunction causes a wide range of primary diseases in adults and children, with highly variable o..

Morphological correlates of mitochondrial dysfunction in children.

CW Chow, DR Thorburn

Journal article  |  2000  |  Human Reproduction

Morphological studies have traditionally played a major role in the study of adults with suspected mitochondrial diseases. Here we..

Towards reliable prenatal diagnosis of mtDNA point mutations: studies of nt8993 mutations in oocytes, fetal tissues, children and adults.

HH Dahl, DR Thorburn, SL White

Journal article  |  2000  |  Human Reproduction

Prenatal diagnosis of mitochondrial DNA (mtDNA) mutations is technically possible, but has only rarely been attempted. This is lar..

Practical problems in detecting abnormal mitochondrial function and genomes

DR Thorburn

Conference Proceedings  |  2000  |  Human Reproduction

Towards reliable prenatal diagnosis of mtDNA point mutations: Studies of nt8993 mutations in oocytes, fetal tissues, children and adults

HHM Dahl, DR Thorburn, SL White

Conference Proceedings  |  2000  |  Human Reproduction

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

DM Kirby, SG Kahler, ML Freckmann, D Reddihough, DR Thorburn

Journal article  |  2000  |  Annals of Neurology

Morphological correlates of mitochondrial dysfunction in children

CW Chow, DR Thorburn, J Robert

Conference Proceedings  |  2000  |  Human Reproduction

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

SL White, S Shanske, I Biros, L Warwick, HM Dahl, DR Thorburn, S Di Mauro

Journal article  |  1999  |  Prenatal Diagnosis

Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation

SL White, S Shanske, JJ McGill, H Mountain, MT Geraghty, S DiMauro, HHM Dahl, DR Thorburn

Journal article  |  1999  |  Journal of Inherited Metabolic Disease

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

SL White, S Shanske, I Biros, L Warwick, HM Dahl, DR Thorburn, S Di Mauro

Journal article  |  1999  |  Prenatal Diagnosis

Late diagnosis of maternal PKU in a family segregating an arylsulfatse E mutation causing symmetrical chondrodysplasia punctata

HHM Dahl, AH Osborn, WM Hutchison, DR Thorburn, LJ Sheffield

Journal article  |  1999  |  Molecular Genetics and Metabolism

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

C Bruno, DM Kirby, Y Koga, B Garavaglia, G Duran, FM Santorelli, LK Shield, WL Xia, S Shanske, JD Goldstein, R Iwanaga, Y Akita, F Carrara, A Davis, M Zeviani, DR Thorburn, S DiMauro

Journal article  |  1999  |  The Journal of Pediatrics

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

SL White, VR Collins, R Wolfe, MA Cleary, S Shanske, S DiMauro, HHM Dahl, DR Thorburn

Journal article  |  1999  |  The American Journal of Human Genetics

The molecular basis of malonyl-CoA decarboxylase deficiency

DR FitzPatrick, A Hill, JL Tolmie, DR Thorburn, L Christodoulou

Journal article  |  1999  |  The American Journal of Human Genetics

Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia

MB Delatycki, J Camakaris, H Brooks, T Evans-Whipp, DR Thorburn, R Williamson, SM Forrest

Journal article  |  1999  |  ANNALS OF NEUROLOGY

Respiratory chain complex I deficiency - An underdiagnosed energy generation disorder

DM Kirby, M Crawford, MA Cleary, HHM Dahl, X Dennett, DR Thorburn

Journal article  |  1999  |  Neurology

Respiratory chain complex in deficiency with pruritus: A novel vitamin responsive clinical feature

D Mowat, DM Kirby, KR Kamath, A Kan, DR Thorburn, J Christodoulou

Journal article  |  1999  |  The Journal of Pediatrics

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

C Bruno, DM Kirby, Y Koga, B Garavaglia, G Duran, FM Santorelli, LK Shield, W Xia, S Shanske, JD Goldstein, R Iwanaga, Y Akita, F Carrara, A Davis, M Zeviani, DR Thorburn, S DiMauro

Journal article  |  1999  |  Journal of Pediatrics

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

DM Kirby, T Milovac, DR Thorburn

Journal article  |  1998  |  Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology

Background: Several mutations in mitochondrial DNA (mtDNA) are associated with the syndrome of mitochondrial myopathy, encephalopa..

A false-positive diagnosis for the common MELAS (A3243G) mutation caused by a novel variant (A3426G) in the ND1 gene of mitochondria DNA

DM Kirby, T Milovac, DR Thorburn

Journal article  |  1998  |  Molecular Diagnosis

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

SL White, DR Thorburn, J Christodoulou, HH Dahl

Journal article  |  1998  |  Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology

Background: Two of the most common mutations in the mitochondrial DNA (mtDNA) of children occur at nucleotide 8993 (nt8993). The b..

Novel mitochondrial DNA variant that may give a false positive diagnosis for the T8993C mutation

SL White, DR Thorburn, J Christodoulou, HHM Dahl

Journal article  |  1998  |  Molecular Diagnosis

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

AR Gregg, AW Warman, DR Thorburn, WE O'Brien

Journal article  |  1998  |  Journal of Inherited Metabolic Disease

Recurrence risks for mitochondrial DNA mutations at Nt8993

S White, VR Collins, HHM Dahl, DR Thorburn

Journal article  |  1998  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Absence of common trifunctional protein mutation in patients with Alpers disease

Z Yang, R Youil, D Thorburn, CW Chow, RGH Cotton, GS Baldwin

Journal article  |  1997  |  Journal of Inherited Metabolic Disease

Diagnostic criteria for respiratory chain disorders in pediatric patients: can we establish consensus criteria?

FP Bernier, X Dennett, CW Chow, MA Cleary, A Boneh, DR Thorburn

Journal article  |  1997  |  AMERICAN JOURNAL OF HUMAN GENETICS

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

IG Macreadie, DR Thorburn, DM Kirby, LA Castelli, NL deRozario, AA Azad

Journal article  |  1997  |  FEBS Letters

Serine protease inhibition and mitochondrial dysfunction associated with cisplatin resistance in human tumor cell lines: Targets for therapy

Y Dong, SJ BernersPrice, DR Thorburn, T Antalis, J Dickinson, T Hurst, L Qiu, SK Khoo, PG Parsons

Journal article  |  1997  |  Biochemical Pharmacology

Skewed segregation of the mtDNA nt 8993 (T->G) mutation in human oocytes

RB Blok, DA Gook, DR Thorburn, HHM Dahl

Journal article  |  1997  |  The American Journal of Human Genetics

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

S Yano, L Sweetman, DR Thorburn, S Mofidi, JC Williams

Journal article  |  1997  |  European Journal of Pediatrics

Mitochondrial electron transport chain defect presenting as hypoglycemia

ML Freckmann, DR Thorburn, DM Kirby, KR Kamath, J Hammond, X Dennett, J Christodoulou

Journal article  |  1997  |  The Journal of Pediatrics

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

JJ Pitt, R Hawkins, M Cleary, M Eggington, DR Thorburn, L Warwick

Journal article  |  1997  |  Journal of Inherited Metabolic Disease

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

RF Ogle, J Christodoulou, E Fagan, RB Blok, DM Kirby, KL Seller, HHM Dahl, DR Thorburn

Journal article  |  1997  |  The Journal of Pediatrics

Leigh syndrome: Clinical features and biochemical and DNA abnormalities

S Rahman, RB Blok, HHM Dahl, DM Danks, DM Kirby, CW Chow, J Christodoulou, DR Thorburn

Journal article  |  1996  |  Annals of Neurology

DIETARY MANIPULATION IN A PATIENT WITH COMBINED MALONIC AND METHYLMALONIC ACIDURIA

AR GREGG, AW WARMAN, DE ZERENGUE, SK SHAPIRA, DR THORBURN, WE OBRIEN

Journal article  |  1995  |  AMERICAN JOURNAL OF HUMAN GENETICS

MTDNA DELETION IN A PATIENT WITH SYMPTOMS OF MITOCHONDRIAL CYTOPATHY BUT WITHOUT RAGGED-RED FIBERS

RB BLOK, DR THORBURN, DM DANKS, HHM DAHL

Journal article  |  1995  |  Biochemical and Molecular Medicine

AN AMINO-ACID SUBSTITUTION IN THE PYRUVATE-DEHYDROGENASE E1-ALPHA GENE, AFFECTING MITOCHONDRIAL IMPORT OF THE PRECURSOR PROTEIN

F TAKAKUBO, P CARTWRIGHT, N HOOGENRAAD, DR THORBURN, F COLLINS, T LITHGOW, HHM DAHL

Journal article  |  1995  |  American Journal of Human Genetics

A NOVEL MUTATION (P316L) IN A FEMALE WITH PYRUVATE-DEHYDROGENASE E1-ALPHA DEFICIENCY

F TAKAKUBO, DR THORBURN, RM BROWN, GK BROWN, HHM DAHL

Journal article  |  1995  |  Human Mutation

A TOPOISOMERASE-II CLEAVAGE SITE IS ASSOCIATED WITH A NOVEL MITOCHONDRIAL-DNA DELETION

RB BLOK, DR THORBURN, GN THOMPSON, HHM DAHL

Journal article  |  1995  |  Human Genetics

A NOVEL MTDNA DELETION IN AN INFANT WITH PEARSON SYNDROME

R KAPSA, GN THOMPSON, DR THORBURN, HHM DAHL, S MARZUKI, E BYRNE, RB BLOK

Journal article  |  1994  |  Journal of Inherited Metabolic Disease

A NOVEL MUTATION AND A POLYMORPHISM IN THE X-CHROMOSOME LOCATED PYRUVATE-DEHYDROGENASE E1-ALPHA GENE (PDHA1)

F TAKAKUBO, DR THORBURN, HHM DAHL

Journal article  |  1993  |  Human Molecular Genetics

MALONYL COENZYME-A DECARBOXYLASE DEFICIENCY

GB MACPHEE, RW LOGAN, JS MITCHELL, DW HOWELLS, E TSOTSIS, DR THORBURN

Journal article  |  1993  |  Archives of Disease in Childhood

A 4-NUCLEOTIDE INSERTION HOTSPOT IN THE X-CHROMOSOME LOCATED PYRUVATE-DEHYDROGENASE E1-ALPHA-GENE (PDHA1)

F TAKAKUBO, DR THORBURN, HHM DAHL

Journal article  |  1993  |  Human Molecular Genetics

MALONIC ACIDURIA AND CARDIOMYOPATHY

R MATALON, K MICHAELS, R KAUL, V WHITMAN, J RODRIGUEZNOVO, S GOODMAN, D THORBURN

Journal article  |  1993  |  Journal of Inherited Metabolic Disease

A FLUOROMETRIC ASSAY FOR SUCCINIC SEMIALDEHYDE DEHYDROGENASE-ACTIVITY SUITABLE FOR PRENATAL-DIAGNOSIS OF THE ENZYME DEFICIENCY

DR THORBURN, GN THOMPSON, DW HOWELLS

Journal article  |  1993  |  Journal of Inherited Metabolic Disease

THE LOSS OF ENZYME-ACTIVITY FROM ERYTHROID-CELLS DURING MATURATION

DR THORBURN, E BEUTLER

Journal article  |  1991  |  Advances in Experimental Medicine and Biology

C-13 AND P-31 NMR-STUDIES OF THE PENTOSE-PHOSPHATE PATHWAY IN HUMAN ERYTHROCYTES

PW KUCHEL, HA BERTHON, WA BUBB, LM MCINTYRE, NK NYGH, DR THORBURN

Conference Proceedings  |  1990  |  BIOMEDICA BIOCHIMICA ACTA

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

PW Kuchel, HA Berthon, WA Bubb, LM McIntyre, NK Nygh, DR Thorburn

Journal article  |  1990  |  Biomedica Biochimica Acta

31P NMR was used to monitor the concentrations of some of the intermediates of the non-oxidative pentose phosphate pathway (PPP) d..

DECAY OF HEXOKINASE DURING RETICULOCYTE MATURATION - IS OXIDATIVE DAMAGE A SIGNAL FOR DESTRUCTION

DR THORBURN, E BEUTLER

Journal article  |  1989  |  Biochemical and Biophysical Research Communications

COMPARISON OF COMPUTER-SIMULATIONS OF THE F-TYPE AND L-TYPE NON-OXIDATIVE HEXOSE-MONOPHOSPHATE SHUNTS WITH P-31-NMR EXPERIMENTAL-DATA FROM HUMAN-ERYTHROCYTES

LM MCINTYRE, DR THORBURN, WA BUBB, PW KUCHEL

Journal article  |  1989  |  European Journal of Biochemistry

COMPUTER-SIMULATION OF THE METABOLIC CONSEQUENCES OF THE COMBINED DEFICIENCY OF 6-PHOSPHOGLUCONOLACTONASE AND GLUCOSE-6-PHOSPHATE-DEHYDROGENASE IN HUMAN-ERYTHROCYTES

DR THORBURN, PW KUCHEL

Journal article  |  1988  |  FASEB JOURNAL

COMPUTER-SIMULATION OF THE METABOLIC CONSEQUENCES OF THE COMBINED DEFICIENCY OF 6-PHOSPHOGLUCONOLACTONASE AND GLUCOSE-6-PHOSPHATE-DEHYDROGENASE IN HUMAN-ERYTHROCYTES

DR THORBURN, PW KUCHEL

Journal article  |  1987  |  The Journal of Laboratory and Clinical Medicine

DETERMINATION OF ERYTHROCYTE GLUCOSE 1,6-BISPHOSPHATE - A COMPARISON OF 2 METHODS USING A CENTRIFUGAL ANALYZER

DR THORBURN, PW KUCHEL

Journal article  |  1987  |  Clinica Chimica Acta

G6PD IN PLASMODIUM-INFECTED ERYTHROCYTES

DR THORBURN, PW KUCHEL

Journal article  |  1987  |  Blood

GLUTATHIONE REGENERATION IN DENSITY-FRACTIONATED HUMAN-ERYTHROCYTES

DR THORBURN, PW KUCHEL

Journal article  |  1987  |  Biomedica Biochimica Acta

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

DR THORBURN, PW KUCHEL

Journal article  |  1985  |  European Journal of Biochemistry

THE RELATIONSHIP BETWEEN GLUCOSE-CONCENTRATION AND RATE OF LACTATE PRODUCTION BY HUMAN-ERYTHROCYTES IN AN OPEN PERFUSION SYSTEM

PW KUCHEL, BE CHAPMAN, VA LOVRIC, JE RAFTOS, IM STEWART, DR THORBURN

Journal article  |  1984  |  Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

THE REGULATION OF GLUTATHIONE REDUCTION IN HUMAN-ERYTHROCYTES

DR THORBURN, PW KUCHEL

Journal article  |  1984  |  PROCEEDINGS OF THE AUSTRALIAN BIOCHEMICAL SOCIETY

THE RELATIONSHIP BETWEEN GLUCOSE-CONCENTRATION AND RATE OF LACTATE PRODUCTION BY HUMAN-ERYTHROCYTES IN AN OPEN PERFUSION SYSTEM

IM STEWART, BE CHAPMAN, PW KUCHEL, VA LOVRIC, JE RAFTOS, DR THORBURN

Journal article  |  1984  |  PROCEEDINGS OF THE AUSTRALIAN BIOCHEMICAL SOCIETY

MONITORING METABOLIC REACTIONS IN ERYTHROCYTES USING NMR-SPECTROSCOPY

PW KUCHEL, BE CHAPMAN, ZH ENDRE, GF KING, DR THORBURN, MJ YORK

Journal article  |  1984  |  Biomedica Biochimica Acta

H-1-NMR, COMPUTER-SIMULATION AND KINETIC ISOTOPE EFFECT STUDIES OF GSSG REDUCTION IN HUMAN-ERYTHROCYTES

DR THORBURN, PW KUCHEL

Journal article  |  1983  |  PROCEEDINGS OF THE AUSTRALIAN BIOCHEMICAL SOCIETY

RNA sequencing identifies a cryptic exon caused by a deep intronic variant in NDUFB10 resulting in isolated Complex I deficiency.

Guy Helman, Alison G Compton, Daniella H Hock, Marzena Walkiewicz, Gemma R Brett, Lynn Pais, Tiong Y Tan, Ricardo De Paoli-Iseppi, Michael B Clark, John Christodoulou, Susan M White, David R Thorburn, David A Stroud, Zornitza Stark, Cas Simons

Journal article

The diagnosis of mitochondrial disorders remains a challenging and often unmet need. We sought to investigate a sibling pair with ..