David R Thorburn

David R Thorburn

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

Genet Med 2019 12 7;21(12):2823-2826. Epub 2019 Jun 7.

Murdoch Children's Research Institute, Melbourne, Australia.

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http://dx.doi.org/10.1038/s41436-019-0568-0DOI Listing
December 2019

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

J Biol Chem 2019 04 12;294(14):5386-5395. Epub 2017 Dec 12.

From the Murdoch Children's Research Institute, Royal Children's Hospital and Department of Paediatrics, University of Melbourne, and

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http://dx.doi.org/10.1074/jbc.R117.809194DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6462508PMC
April 2019

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

Mol Genet Metab 2019 01 11;126(1):77-82. Epub 2018 Dec 11.

Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.12.002DOI Listing
January 2019

Mitochondrial dysfunction in diabetic kidney disease.

Nat Rev Nephrol 2018 05 19;14(5):291-312. Epub 2018 Feb 19.

Departments of Medicine and Paediatrics, The University of Melbourne, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1038/nrneph.2018.9DOI Listing
May 2018

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

Brain 2017 11;140(11):e67

Murdoch Children's Research Institute, Royal Children's Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia.

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http://dx.doi.org/10.1093/brain/awx240DOI Listing
November 2017

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

Cell Rep 2017 Nov;21(6):1624-1638

Department of Immunology, Garvan Institute of Medical Research, 384 Victoria St., Darlinghurst, NSW 2010, Australia; St Vincent's Clinical School, Department of Medicine, University of New South Wales, Sydney, NSW 2010, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2017.10.044DOI Listing
November 2017

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

PLoS One 2017 8;12(6):e0178125. Epub 2017 Jun 8.

Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0178125PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5464557PMC
September 2017

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

Mol Cell 2017 Aug 14;67(3):457-470.e5. Epub 2017 Jul 14.

Department of Biochemistry and Molecular Biology and The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.molcel.2017.06.014DOI Listing
August 2017

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

Helicobacter 2017 Jun 9;22(3). Epub 2017 Feb 9.

Murdoch Childrens Research Institute, The Royal Children's Hospital, Parkville, VIC 3052, Australia.

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http://doi.wiley.com/10.1111/hel.12378
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http://dx.doi.org/10.1111/hel.12378DOI Listing
June 2017

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

J Inherit Metab Dis 2017 03 19;40(2):261-269. Epub 2016 Dec 19.

Genetic Metabolic Disorders Research Unit, The Children's Hospital at Westmead, KRI, Level 3, Locked Bag 4001, Westmead, NSW, 2145, Australia.

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http://dx.doi.org/10.1007/s10545-016-0010-6DOI Listing
March 2017

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

Nature 2016 Oct 14;538(7623):123-126. Epub 2016 Sep 14.

Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, 3800, Melbourne, Australia.

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http://dx.doi.org/10.1038/nature19754DOI Listing
October 2016

Mitochondrial diseases.

Nat Rev Dis Primers 2016 10 20;2:16080. Epub 2016 Oct 20.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School Framlington Place, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

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http://dx.doi.org/10.1038/nrdp.2016.80DOI Listing
October 2016

Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease.

Mitochondrion 2016 09 27;30:162-7. Epub 2016 Jul 27.

Institute for Neuroscience and Muscle Research and T.Y. Nelson Department of Neurology & Neurosurgery, The Children's Hospital at Westmead, Sydney, Australia; Discipline of Paediatrics and Child Health, The Children's Hospital at Westmead Clinical School, The University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1016/j.mito.2016.07.014DOI Listing
September 2016

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

Clin Sci (Lond) 2016 May 1;130(9):711-20. Epub 2016 Feb 1.

Glycation, Nutrition & Metabolism Laboratory, Baker IDI Heart & Diabetes Institute, Melbourne, Victoria 8008, Australia Glycation and Diabetes, Mater Research Institute-The University of Queensland, TRI, South Brisbane, QLD 4102, Australia School of Medicine, Mater Clinical School, The University of Queensland, St Lucia, QLD 4067, Australia.

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http://www.clinsci.org/content/ppclinsci/130/9/711.full.pdf
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http://www.clinsci.org/content/ppclinsci/early/2016/02/17/CS
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http://clinsci.org/cgi/doi/10.1042/CS20150838
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http://dx.doi.org/10.1042/CS20150838DOI Listing
May 2016

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

PLoS One 2014 12;9(8):e104879. Epub 2014 Aug 12.

Institute for Molecular Bioscience, University of Queensland, St Lucia, Queensland, Australia; Departments of Integrative Systems Biology and Pediatrics, George Washington University School of Medicine, Washington, D.C., United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0104879PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4130626PMC
April 2016

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

Diabetes 2016 04 28;65(4):1085-98. Epub 2016 Jan 28.

Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia Glycation and Diabetes Group, Mater Research Institute-University of Queensland, Translational Research Institute, Woolloongabba, South Brisbane, Queensland, Australia School of Medicine, Mater Clinical School, The University of Queensland, St. Lucia, Queensland, Australia.

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http://dx.doi.org/10.2337/db15-0864DOI Listing
April 2016

Leigh syndrome: One disorder, more than 75 monogenic causes.

Ann Neurol 2016 Feb 15;79(2):190-203. Epub 2015 Dec 15.

Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1002/ana.24551DOI Listing
February 2016

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

Stem Cells Dev 2016 Feb 7;25(3):239-50. Epub 2016 Jan 7.

1 Centre for Genetic Diseases, Hudson Institute of Medical Research , Clayton, Australia .

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http://dx.doi.org/10.1089/scd.2015.0211DOI Listing
February 2016

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

Mitochondrion 2015 Nov 30;25:113-9. Epub 2015 Oct 30.

Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Western Australia 6009, Australia; School of Chemistry and Biochemistry, The University of Western Australia, Western Australia 6009, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15677249153003
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http://dx.doi.org/10.1016/j.mito.2015.10.008DOI Listing
November 2015

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

Hum Mol Genet 2015 Oct 9;24(19):5404-15. Epub 2015 Jul 9.

Department of Biochemistry and Molecular Biology, Monash University, Clayton 3800, Melbourne, Australia,

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http://dx.doi.org/10.1093/hmg/ddv265DOI Listing
October 2015

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

Hum Mol Genet 2015 May 12;24(10):2952-65. Epub 2015 Feb 12.

Department of Biochemistry and Molecular Biology, Monash University, Clayton, Melbourne 3800, Australia,

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http://dx.doi.org/10.1093/hmg/ddv058DOI Listing
May 2015

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

Hum Mol Genet 2015 Apr 2;24(8):2297-307. Epub 2015 Jan 2.

Genetic Metabolic Disorders Research Unit, Discipline of Paediatrics and Child Health and Discipline of Genetic Medicine, University of Sydney, Sydney, NSW 2006, Australia,

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http://dx.doi.org/10.1093/hmg/ddu747DOI Listing
April 2015

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

Cell Metab 2015 Apr;21(4):609-21

Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA; Diabetes Unit, Medical Services, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Medicine, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://www.cell.com/cms/attachment/2035263924/2050689197/mmc
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http://linkinghub.elsevier.com/retrieve/pii/S155041311500109
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http://dx.doi.org/10.1016/j.cmet.2015.03.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4663978PMC
April 2015

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

PLoS One 2014 7;9(7):e101718. Epub 2014 Jul 7.

Centre for Neural Engineering, Department of Electrical and Electronic Engineering, The University of Melbourne, Melbourne, Victoria, Australia; Department of Anatomy and Neuroscience, The University of Melbourne, Melbourne, Victoria, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0101718PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4084949PMC
February 2015

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

Front Genet 2015 6;6:21. Epub 2015 Feb 6.

Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki Helsinki, Finland ; Department of Medical Genetics, Haartman Institute, University of Helsinki Helsinki, Finland.

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http://dx.doi.org/10.3389/fgene.2015.00021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4319469PMC
February 2015

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

JIMD Rep 2015 10;15:13-27. Epub 2014 Apr 10.

Metabolic Research, Murdoch Children's Research Institute, Royal Children's Hospital, Flemington Road, Parkville, Melbourne, VIC, 3052, Australia.

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http://dx.doi.org/10.1007/8904_2014_293DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4270867PMC
December 2014

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

Biosci Rep 2014 Nov 21;34(6):e00151. Epub 2014 Nov 21.

*Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, VIC 3052, Australia.

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http://dx.doi.org/10.1042/BSR20140151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4240023PMC
November 2014

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

PLoS Genet 2013 26;9(12):e1004034. Epub 2013 Dec 26.

Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia ; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia ; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1371/journal.pgen.1004034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3873243PMC
August 2014

Modelling biochemical features of mitochondrial neuropathology.

Biochim Biophys Acta 2014 Apr 23;1840(4):1380-92. Epub 2013 Oct 23.

The Murdoch Childrens Research Institute, The Royal Children's Hospital, Melbourne, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.bbagen.2013.10.017DOI Listing
April 2014

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

Pediatr Int 2014 Apr 6;56(2):180-7. Epub 2014 Mar 6.

Department of Pediatrics, Faculty of Medicine, Saitama Medical University, Saitama, Japan; Murdoch Childrens Research Institute, Royal Children's Hospital and Department of Paediatrics, University of Melbourne, Melbourne, Australia.

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http://dx.doi.org/10.1111/ped.12249DOI Listing
April 2014

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

Am J Hum Genet 2014 Feb 23;94(2):209-22. Epub 2014 Jan 23.

Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, VIC 3052, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.12.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928654PMC
February 2014

Fumarase deficiency in dichorionic diamniotic twins.

Twin Res Hum Genet 2013 Dec 4;16(6):1117-20. Epub 2013 Nov 4.

Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1017/thg.2013.72DOI Listing
December 2013

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

Antioxid Redox Signal 2013 Aug 1;19(4):331-43. Epub 2013 Mar 1.

Glycation, Nutrition and Metabolism Laboratory, Baker IDI Heart & Diabetes Institute, Melbourne, Australia.

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http://dx.doi.org/10.1089/ars.2012.4719DOI Listing
August 2013

189th ENMC international workshop complex I deficiency: diagnosis and treatment 20-22 April 2012, Naarden, The Netherlands.

Neuromuscul Disord 2013 Jun 11;23(6):506-15. Epub 2013 Apr 11.

Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London WC1N 1EH, UK.

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http://dx.doi.org/10.1016/j.nmd.2013.03.004DOI Listing
June 2013

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

JIMD Rep 2012 4;4:5-11. Epub 2011 Nov 4.

Department of Gastroenterology, The Children's Hospital at Westmead (CHW), Hawkesbury Road, Locked Bag 4001, Westmead, 2145, NSW, Australia.

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http://dx.doi.org/10.1007/8904_2011_29DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509872PMC
February 2013

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

Hum Mutat 2012 Sep 2;33(9):1352-8. Epub 2012 Jul 2.

Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1002/humu.22118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4394605PMC
September 2012

Understanding mitochondrial complex I assembly in health and disease.

Biochim Biophys Acta 2012 Jun 2;1817(6):851-62. Epub 2011 Sep 2.

Department of Biochemistry, La Trobe University, Melbourne, VIC 3086, Australia.

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http://dx.doi.org/10.1016/j.bbabio.2011.08.010DOI Listing
June 2012

Biochemical analyses of the electron transport chain complexes by spectrophotometry.

Methods Mol Biol 2012 ;837:49-62

Murdoch Children's Research Institute, Parkville, VIC, Australia.

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http://dx.doi.org/10.1007/978-1-61779-504-6_4DOI Listing
April 2012

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

Hum Mutat 2012 Feb 22;33(2):411-8. Epub 2011 Dec 22.

Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1002/humu.21654DOI Listing
February 2012

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

J Mol Biol 2011 Dec 14;414(3):413-26. Epub 2011 Oct 14.

Centre for Reproduction and Development, Monash Institute of Medical Research, Clayton 3168, Australia.

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http://linkinghub.elsevier.com/retrieve/pii/S002228361101136
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http://dx.doi.org/10.1016/j.jmb.2011.10.012DOI Listing
December 2011

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

Genet Med 2011 Sep;13(9):794-9

Center for Developmental Therapeutics, Seattle Children's Research Institute, Seattle, Washington, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31821afca5DOI Listing
September 2011

The molecular basis of human complex I deficiency.

IUBMB Life 2011 Sep 15;63(9):669-77. Epub 2011 Jul 15.

Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1002/iub.495DOI Listing
September 2011

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.

Eur J Hum Genet 2011 Jul 2;19(7):769-75. Epub 2011 Mar 2.

Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1038/ejhg.2011.18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3137493PMC
July 2011

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

Mitochondrion 2011 Jan 12;11(1):104-7. Epub 2010 Aug 12.

Murdoch Childrens Research Institute and Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.mito.2010.07.012DOI Listing
January 2011

Recent advances in the genetics of mitochondrial encephalopathies.

Curr Neurol Neurosci Rep 2010 Jul;10(4):277-85

Murdoch Childrens Research Institute, The Royal Children's Hospital, 10th Floor, Flemington Road, Parkville, Victoria, 3052, Australia.

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http://dx.doi.org/10.1007/s11910-010-0112-8DOI Listing
July 2010

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

FEBS J 2009 Nov 16;276(22):6701-13. Epub 2009 Oct 16.

Department of Biochemistry, La Trobe University, Melbourne, Australia.

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http://dx.doi.org/10.1111/j.1742-4658.2009.07384.xDOI Listing
November 2009

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

J Am Soc Nephrol 2009 Apr 21;20(4):742-52. Epub 2009 Jan 21.

Juvenile Diabetes Research Foundation Einstein Centre for Diabetes Complications, Division of Diabetes Complications, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia.

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http://www.jasn.org/cgi/doi/10.1681/ASN.2008050514
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http://dx.doi.org/10.1681/ASN.2008050514DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2663823PMC
April 2009

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

Eur J Pediatr 2009 Mar 17;168(3):297-302. Epub 2008 Jun 17.

Department of Metabolism, Chiba Children's Hospital, 579-1, Henda-cho, Midori-ku, Chiba, 266-0007, Japan.

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http://dx.doi.org/10.1007/s00431-008-0753-7DOI Listing
March 2009

Assembly of mitochondrial complex I and defects in disease.

Biochim Biophys Acta 2009 Jan 4;1793(1):78-88. Epub 2008 May 4.

Department of Biochemistry, La Trobe University, 3086 Melbourne, Australia.

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http://dx.doi.org/10.1016/j.bbamcr.2008.04.015DOI Listing
January 2009

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

Pediatrics 2008 Nov;122(5):1003-8

Metabolic Service, Genetic Health Services Victoria, Victoria and Royal Children's Hospital, Melbourne, Australia.

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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2007-3502DOI Listing
November 2008

Compensatory growth of healthy cardiac cells in the presence of diseased cells restores tissue homeostasis during heart development.

Dev Cell 2008 Oct;15(4):521-33

Department of Anatomy & Developmental Biology, Monash University, Wellington Road, Clayton VIC 3800, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.devcel.2008.09.005DOI Listing
October 2008

Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders.

Twin Res Hum Genet 2008 Aug;11(4):395-411

1 Murdoch Childrens Research Institute and Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1375/twin.11.4.395DOI Listing
August 2008

Ophthalmologic presentation of oxidative phosphorylation diseases of childhood.

Pediatr Neurol 2008 Jun;38(6):395-7

Department of Ophthalmology, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.pediatrneurol.2008.02.003DOI Listing
June 2008

Juvenile Alpers disease.

Arch Neurol 2008 Jan;65(1):121-4

Department of Pediatrics and Child Health, Wellington School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand.

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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/arc
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http://dx.doi.org/10.1001/archneurol.2007.14DOI Listing
January 2008

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

Eur J Hum Genet 2007 Jul 11;15(7):779-83. Epub 2007 Apr 11.

Research Program of Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland.

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http://www.nature.com/articles/5201831
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http://dx.doi.org/10.1038/sj.ejhg.5201831DOI Listing
July 2007

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

Mol Cell Biol 2007 Jun 16;27(12):4228-37. Epub 2007 Apr 16.

Department of Biochemistry, La Trobe University, Melbourne, Australia.

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http://dx.doi.org/10.1128/MCB.00074-07DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1900046PMC
June 2007

Biochemical assays of respiratory chain complex activity.

Methods Cell Biol 2007 ;80:93-119

Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Framlington Place, Newcastle University, Newcastle upon Tyne, NE2 4HH, United Kingdom.

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http://dx.doi.org/10.1016/S0091-679X(06)80004-XDOI Listing
June 2007

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

Anal Biochem 2007 May 24;364(2):128-37. Epub 2007 Feb 24.

Department of Biochemistry, La Trobe University, Melbourne, VIC 3086, Australia.

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http://dx.doi.org/10.1016/j.ab.2007.02.022DOI Listing
May 2007

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

Hum Reprod 2006 Oct 4;21(10):2467-73. Epub 2006 Apr 4.

Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, London, WC1N 1EH, UK.

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http://dx.doi.org/10.1093/humrep/del076DOI Listing
October 2006

Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients.

J Mol Biol 2006 Aug 5;361(3):462-9. Epub 2006 Jul 5.

Department of Biochemistry, La Trobe University, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.jmb.2006.06.057DOI Listing
August 2006

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

Dev Med Child Neurol 2006 Feb;48(2):132-6

Metabolic Service, Genetic Health Services, Victoria Royal Children's Hospital, Australia.

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http://dx.doi.org/10.1017/S0012162206000284DOI Listing
February 2006

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

J Pediatr 2005 Jul;147(1):115-8

National Metabolic Service, Starship Children's Hospital, the Neonatal Service, Kidz First Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1016/j.jpeds.2005.03.006DOI Listing
July 2005

POLG mutations and Alpers syndrome.

Ann Neurol 2005 Jun;57(6):921-3

Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.

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http://dx.doi.org/10.1002/ana.20498DOI Listing
June 2005

Flow cytometry in the study of mitochondrial respiratory chain disorders.

Mitochondrion 2002 May;1(5):437-45

Department of Biological Sciences, Macquarie University, North Ryde, Sydney, NSW, Australia.

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http://dx.doi.org/10.1016/s1567-7249(02)00008-9DOI Listing
May 2002