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PROF DAVID THORBURN

Positions

Honorary, Paediatrics Royal Children's Hospital

Genetic reseearch (mitchondrial DNA, genes)

Overview

OverviewText1

Current appointments:

NHMRC Principal Research Fellow

Head, Mitochondrial & Metabolic Research Group, MCRI

Head, Mitochondrial Diagnostoc Laboratory, VCSG Pathology

Honorary Fellow, Genetic Sciences Victoria

Honorary Principal Fellow, Department of Paediatrics, University of Melbounre

Has subject area

For 2008 6 Digit Code
- Medical Genetics (excl. Cancer Genetics)
Seo 2008 6 Digit Code
- Inherited Diseases (incl. Gene Therapy)

Affiliation

Member of

Scientific Advisory Board, FinMIT (Academy of Finland Centre of Excellence). Chair 2007 - 2012
Scientific Advisory Board, United Mitochondiral Disease Foundation. Member 2001 - 2006

Publications

Selected publications

2012
- Research Book Chapters
  - Biochemical analyses of the electron transport chain complexes by spectrophotometry. Mitochondrial disorders: biochemical and molecular analysis. Humana Press. 49-62. 2012
- Journal Articles Refereed
  - A case of late-adult onset Leigh syndrome with review of the literature of adult-onset cases. Journal of Clinical Neuroscience. 19:195-202. 2012
  - A case of late-adult onset Leigh syndrome with review of the literature of adult-onset cases. Journal of Clinical Neuroscience. 19:195-202. 2012
  - A case of late-adult onset Leigh syndrome with review of the literature of adult-onset cases. Journal of Clinical Neuroscience. 19:195-202. 2012
  - A case of late-adult onset Leigh syndrome with review of the literature of adult-onset cases. Journal of Clinical Neuroscience. 19:195-202. 2012
  - A case of late-adult onset Leigh syndrome with review of the literature of adult-onset cases. Journal of Clinical Neuroscience. 19:195-202. 2012
  - A case of late-adult onset Leigh syndrome with review of the literature of adult-onset cases. Journal of Clinical Neuroscience. 19:195-202. 2012
  - A case of myelopathy, myopathy, peripheral neuropathy and subcortical grey matter degeneration associated with recessive compound heterozygous POLG1 mutations. Neuromuscular Disorders. 22:401-405. 2012
  - Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing. Science Translational Medicine. 4. 2012
  - Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation. Human Mutation. 33:411-418. 2012
  - 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. Journal of Biological Chemistry. 287:20652-20663. 2012
  - Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy. Proceedings of the National Academy of Sciences of the United States of America. 109:6165-6170. 2012
  - Toward a mtDNA locus-specific mutation database using the LOVD platform. Human Mutation. 33:1352-1358. 2012
  - Treatment for mitochondrial disorders. Cochrane Database of Systematic Reviews. 18. 2012
  - Understanding mitochondrial complex I assembly in health and disease. Biochimica et Biophysica Acta. Bioenergetics. 1817:851-862. 2012
2011
- Journal Articles Refereed
  - Alpers Syndrome With Mutations in POLG: Clinical and Investigative Features. Pediatric Neurology. 45:311-318. 2011
  - Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome. Mitochondrion. 11:104-107. 2011
  - 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. Genetics in Medicine. 13:392-399. 2011
  - Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation. Cell Metabolism. 14:428-434. 2011
  - Mutations in the Gene Encoding C8orf38 Block Complex I Assembly by Inhibiting Production of the Mitochondria-Encoded Subunit ND1. Journal of Molecular Biology. 414:413-426. 2011
  - Respiratory chain complex I deficiency caused by mitochondrial DNA mutations. European Journal of Human Genetics. 19:769-775. 2011
- Other Refereed Contribution to Refereed Journals
  - The Molecular Basis of Human Complex I Deficiency. IUBMB Life. 63:669-677. 2011
2010
- Journal Articles Refereed
  - High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nature Genetics. 42:851-+. 2010
  - Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia-MLASA Syndrome. American Journal of Human Genetics. 87:52-59. 2010
  - Recent Advances in the Genetics of Mitochondrial Encephalopathies. Current Neurology and Neuroscience Reports. 10:277-285. 2010
  - The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families. Brain. 133:2952-2963. 2010
2009
- Journal Articles Refereed
  - Assembly of mitochondrial complex 1 and defects in disease. Biochimica et Biophysica Acta - Molecular Cell Research. 1793:78-88. 2009
  - Assembly of nuclear DNA-encoded subunits into mitochondrial complex IV, and their preferential integration into supercomplex forms in patient mitochondria. FEBS Journal. 276:6701-6713. 2009
  - RAGE-Induced Cytosolic ROS Promote Mitochondrial Superoxide Generation in Diabetes. Journal of the American Society of Nephrology. 20:742-752. 2009
2008
- Journal Articles Refereed
  - A mitochondrial protein compendium elucidates complex i disease biology. Cell. 134:112-123. 2008
  - Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders. Twin Research and Human Genetics. 11:395-411. 2008
  - Compensatory Growth of Health Cardiac Cells in the Presence of Diseased Cells Restores Tissue Homeostasis during Heart Development. Developmental Cell. 15:521-533. 2008
  - Impact of a genetic diagnosis of a mitochondrial disorder 5 -17 years after the death of an affected child. Journal of Genetic Counseling. 17:261-273. 2008
  - Intractable secretory diarrhea in a Japanese boy with mitochondrial respiratory chain complex I deficiency. European Journal of Pediatrics. 168:297-302. 2008
  - Juvenile alpers disease. Archives of Neurology. 65:121-124. 2008
  - Mitochondrial Oxidative Phosphorylation Disorders Presenting in Neonates: Clinical Manifestations and Enzymatic and Molecular Diagnoses. Pediatrics. 122:1003-1008. 2008
  - Mutation of C20orf7 disrupts Complex I assembly and causes lethal neonatal mitochondrial disease. American Journal of Human Genetics. 83:468-478. 2008
  - Ophthalmologic presentation of oxidative phosphorylation diseases of childhood. Pediatric Neurology. 38:395-397. 2008
2007
- Journal Articles Refereed
  - Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders. European Journal of Human Genetics. 15:779-783. 2007
  - Analysis of mitochondrial subunit assembly into respiratory chain complexes using Blue Native polyacrylamide gel electophoresis. Analytical Biochemistry. 364:128-137. 2007
  - Analysis of the Assembly Profiles for Mitochondrial- and Nuclear-DNA-Encoded Subunits into Complex I. Molecular and Cellular Biology. 27:4228-4237. 2007
  - Cardiac manifestations in oxidative phosphorylation disorders of childhood. Journal of Pediatrics. 150:407-411. 2007
  - Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene casue disease. EMBO Journal. 26:3227-3237. 2007
  - Mutations in the Gene Encoding 3-Hydroxyisobutyryl-CoAHydrolase Results in Progressive Infantile Neurodegeneration. American Journal of Human Genetics. 80:195-199. 2007
2006
- Journal Articles Refereed
  - Decreased activities of mitochondrial respiratory chain complexes in non-mitochondrial respiratory chain diseases. Developmental Medicine and Child Neurology. 48:132-136. 2006
  - Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma. Human Reproduction. 21:2467-2473. 2006
  - Mitochondrial Respiratory Chain Supercomplexes Are Destabilized in Barth Syndrome Patients. Journal of Molecular Biology. 361:462-469. 2006
  - Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome. Journal of Lipid Research. 47:2346-2350. 2006
2005
- Journal Articles Refereed
  - Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis. Journal of Lipid Research. 46:1182-1195. 2005
  - Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography.. Molecular Genetics and Metabolism. 84:61-74. 2005
  - New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. Archives of Neurology. 62:745-747. 2005
  - POLG mutations and Alpers syndrome. Annals of Neurology. 57:921-923. 2005
- Other Refereed Contribution to Refereed Journals
  - The importance of liver biopsy in the investigation of possible mitochondrial respiratory chain disease. Neuropediatrics. 36:256-259. 2005
2004
- Journal Articles Refereed
  - NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.. Journal of Clinical Investigation. 114:837-845. 2004
  - De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.. Annals of Neurology. 55:58-64. 2004
  - Mitochondrial disorders: prevalence, myths and advances.. Journal of Inherited Metabolic Disease. 27:349-362. 2004
  - Risk of developing a mitochondrial DNA deletion disorder.. The Lancet. 364:592-596. 2004
- Journal Articles Unrefereed
  - Diverse powerhouses.. Nature Genetics. 36:13-14. 2004
- Other Refereed Contribution to Refereed Journals
  - Mitochondrial diseases: not so rare after all.. Internal Medicine Journal. 34:3-5. 2004
  - Mutations of the mitochondrial ND1 gene as a cause of MELAS. Journal of Medical Genetics. 41:784-789. 2004
2003
- Journal Articles Refereed
  - Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease. Annals of Neurology. 54:473-478. 2003
  - MLYCD mutation analysis: evidence for protein mistargeting as a cause of MYLCD deficiency.. Human Mutation. 22:288-300. 2003
  - Minimum birth prevalence of mitchondrial respiratory chain disorders in children.. Brain. 126:1905-1912. 2003
2002
- Journal Articles Refereed
  - Diagnostic criteria for respiratory chain disorders in adults and children. Neurology. 59:1406-1411. 2002
  - Flow cytometry in the study of mitochondrial respiratory chain disorders. Mitochondrion. 1:437-445. 2002
2001
- Edited Books
  - Seminars in medical genetics:Mitochondrial diseases. Wiley-Liss. 2001
- Journal Articles Refereed
  - Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain. Journal of Inherited Metabolic Disease. 24:15-27. 2001
- Journal Articles Unrefereed Letters or Notes
  - Fatal portal hypertension, liver failure,a nd mitochondriaal dysfunction after HIV-1 nucleoside analogue-induced hepatitis and lactic acidaemia. The Lancet. 357:1412-1414. 2001
  - The pros and cons of mitochondrial manipulation in the human germ line. Mitochondrion. 1:123-127. 2001
- Other Refereed Contribution to Refereed Journals
  - Mitochondrial diseases: beyond the magic circle. American Journal of Medical Genetics. 106:1-3. 2001
- Conference Papers Unrefereed
  - Diagnosis of mitochondrial disorders:clinical and biochemical approach. 312-316. 2001

Research

Investigator on

Grant
- THREE-DIMENSIONAL CRYO ELECTRON MICROSCOPY FACILITY (Linkage Infrastructure (Equipment and Facilities)) awarded by AUST RESEARCH COUNCIL 2013

Awards

Education and training

PhD, Institution not known
BSc, Institution not known

Awards and honors

Fulbright Postdoctoral Fellow, 1987

Supervision

Available for supervision

Y

Contact Details
- thorburn@unimelb.edu.au
- 61 3 8341 6235
- Location
  - Level: Room:, RCH Educ Inst - 159 Flemington Rd Nth Melb, Parkville
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