Publications by authors named "David R Thorburn"

99Publications

A Novel Variant in COX16 Causes Cytochrome c Oxidase Deficiency, Severe Fatal Neonatal Lactic Acidosis, Encephalopathy, Cardiomyopathy and Liver Dysfunction.

Authors:
Liesbeth T M Wintjes Maina Kava Frans A van den Brandt Mariël A M van den Brand Oksana Lapina Yngve T Bliksrud Mari Ann Kulseth Silja Svanstrøm Amundsen Terje R Selberg Marion Ybema-Antoine Omar A Z Tutakhel Lawrence Greed David R Thorburn Trine Tangeraas Shanti Balasubramaniam Richard J T Rodenburg

Hum Mutat 2020 Nov 10. Epub 2020 Nov 10.

Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud Centre for Mitochondrial Medicine, Radboudumc, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/humu.24137DOI Listing
November 2020

Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10.

Authors:
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

Hum Mutat 2020 Nov 10. Epub 2020 Nov 10.

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

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http://dx.doi.org/10.1002/humu.24135DOI Listing
November 2020

The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.

Authors:
Lisa G Riley Joëlle Rudinger-Thirion Magali Frugier Meredith Wilson Melissa Luig Thushari Indika Alahakoon Cheng Yee Nixon Edwin P Kirk Tony Roscioli Sebastian Lunke Zornitza Stark Klaas J Wierenga Sirish Palle Maie Walsh Emily Higgs Susan Arbuckle Shalini Thirukeswaran Alison G Compton David R Thorburn John Christodoulou

Hum Mutat 2020 Aug;41(8):1425-1434

Discipline of Child & Adolescent Health, Sydney Medical School, Sydney, Australia.

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http://dx.doi.org/10.1002/humu.24050DOI Listing
August 2020

Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).

Authors:
Elena J Tucker Rocio Rius Sylvie Jaillard Katrina Bell Phillipa J Lamont André Travessa Juliette Dupont Lurdes Sampaio Jérôme Dulon Sandrine Vuillaumier-Barrot Sandra Whalen Arnaud Isapof Tanya Stojkovic Susana Quijano-Roy Gorjana Robevska Jocelyn van den Bergen Chloe Hanna Andrea Simpson Katie Ayers David R Thorburn John Christodoulou Philippe Touraine Andrew H Sinclair

Hum Genet 2020 Oct 12;139(10):1325-1343. Epub 2020 May 12.

Reproductive Development Group, Murdoch Children's Research Institute, Melbourne, Australia.

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http://dx.doi.org/10.1007/s00439-020-02176-wDOI Listing
October 2020

HIGD2A is Required for Assembly of the COX3 Module of Human Mitochondrial Complex IV.

Authors:
Daniella H Hock Boris Reljic Ching-Seng Ang Linden Muellner-Wong Hayley S Mountford Alison G Compton Michael T Ryan David R Thorburn David A Stroud

Mol Cell Proteomics 2020 07 21;19(7):1145-1160. Epub 2020 Apr 21.

Department of Biochemistry and Molecular Biology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Victoria, Australia

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http://dx.doi.org/10.1074/mcp.RA120.002076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7338084PMC
July 2020

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

Authors:
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

Genet Med 2020 Jul 21;22(7):1254-1261. Epub 2020 Apr 21.

Genetic Metabolic Disorders Research Unit, The Children's Hospital at Westmead, Sydney, Australia.

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http://dx.doi.org/10.1038/s41436-020-0793-6DOI Listing
July 2020

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

Authors:
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

Elife 2020 Mar 18;9. Epub 2020 Mar 18.

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http://dx.doi.org/10.7554/eLife.56968DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7080502PMC
March 2020

Assessment of mitochondrial respiratory chain enzymes in cells and tissues.

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

Methods Cell Biol 2020 14;155:121-156. Epub 2019 Dec 14.

Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom; NHS Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/bs.mcb.2019.11.007DOI Listing
December 2019

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

Authors:
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

J Clin Med 2019 Nov 19;8(11). Epub 2019 Nov 19.

Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.

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http://dx.doi.org/10.3390/jcm8112020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6912252PMC
November 2019

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

Authors:
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

Elife 2019 11 4;8. Epub 2019 Nov 4.

Department of Biochemistry and Molecular Biology, The University of Melbourne, Melbourne, Australia.

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http://dx.doi.org/10.7554/eLife.48828DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6861005PMC
November 2019

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

Authors:
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

Eur J Hum Genet 2019 12 29;27(12):1821-1826. Epub 2019 Jul 29.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1038/s41431-019-0477-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6871088PMC
December 2019

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

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

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

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

Authors:
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

Hum Mutat 2019 07 13;40(7):893-898. Epub 2019 Apr 13.

Brain and Mitochondrial Research, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1002/humu.23753DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661004PMC
July 2019

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

Authors:
Hannah Hayhurst Irenaeus F M 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 Dorota Wesol-Kucharska Dariusz Rokicki Hubert J M Smeets Ewa Pronicka David R Thorburn Grainne S Gorman Robert McFarland Robert W Taylor Yi Shiau Ng

Ann Clin Transl Neurol 2019 03 17;6(3):515-524. Epub 2019 Feb 17.

Wellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.

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http://dx.doi.org/10.1002/acn3.725DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6414492PMC
March 2019

Diagnosis of 'possible' mitochondrial disease: an existential crisis.

Authors:
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 Carolyn Sue Mark Tarnopolsky David R Thorburn Jerry Vockley Shamima Rahman

J Med Genet 2019 03 25;56(3):123-130. Epub 2019 Jan 25.

Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.

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http://dx.doi.org/10.1136/jmedgenet-2018-105800DOI Listing
March 2019

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

Authors:
Nicole J Van Bergen Yiran Guo Julia Rankin Nicole Paczia Julia Becker-Kettern Laura S Kremer Angela Pyle Jean-François Conrotte Carolyn Ellaway Peter Procopis Kristina Prelog Tessa Homfray Júlia Baptista Emma Baple Matthew Wakeling Sean Massey Daniel P Kay Anju Shukla Katta M Girisha Leslie E S Lewis Saikat Santra Rachel Power Piers Daubeney Julio Montoya Eduardo Ruiz-Pesini Reka Kovacs-Nagy Martin Pritsch Uwe Ahting David R Thorburn Holger Prokisch Robert W Taylor John Christodoulou Carole L Linster Sian Ellard Hakon Hakonarson

Brain 2019 01;142(1):50-58

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA USA.

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https://academic.oup.com/brain/article/142/1/50/5255623
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http://dx.doi.org/10.1093/brain/awy310DOI Listing
January 2019

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

Authors:
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

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

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

Authors:
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 Boddaert Zahra Assouline Mingma D Sherpa Eric E Schadt Sander M Houten James Byrnes Elizabeth M McCormick Zarazuela Zolkipli-Cunningham Katrina Haude Zhancheng Zhang Kyle Retterer Renkui Bai Sarah E Calvo Vamsi K Mootha John Christodoulou Agnes Rötig Aleksandra Filipovska Ingrid Cristian Marni J Falk Metodi D Metodiev David R Thorburn

Am J Hum Genet 2018 04;102(4):713

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http://dx.doi.org/10.1016/j.ajhg.2018.03.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985357PMC
April 2018

Mitochondrial dysfunction in diabetic kidney disease.

Authors:
Josephine M Forbes David R Thorburn

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

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

Authors:
Ann E Frazier David R Thorburn Alison G Compton

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

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

Authors:
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

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

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

Authors:
Ann E Frazier Ian J Holt Antonella Spinazzola David R Thorburn

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

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

Authors:
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

Cell Death Differ 2018 01 20;25(1):217-225. Epub 2017 Oct 20.

St. Vincent's Institute, Fitzroy, VIC 3065, Australia.

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http://dx.doi.org/10.1038/cdd.2017.168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5729528PMC
January 2018

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

Authors:
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 Boddaert Zahra Assouline Mingma D Sherpa Eric E Schadt Sander M Houten James Byrnes Elizabeth M McCormick Zarazuela Zolkipli-Cunningham Katrina Haude Zhancheng Zhang Kyle Retterer Renkui Bai Sarah E Calvo Vamsi K Mootha John Christodoulou Agnes Rötig Aleksandra Filipovska Ingrid Cristian Marni J Falk Metodi D Metodiev David R Thorburn

Am J Hum Genet 2017 Aug;101(2):239-254

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

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http://dx.doi.org/10.1016/j.ajhg.2017.07.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5544391PMC
August 2017

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

Authors:
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

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

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

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

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

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

Authors:
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 L R Mitchell Deborah Jackson Abdul Sesay Miriam Di Re Lambert P van den Heuvel Derek Burke David Francis Sebastian Lunke George McGillivray Simone Mandelstam Fanny Mochel Boris Keren Claude Jardel Anne M Turner P Ian Andrews Jan Smeitink Johannes N Spelbrink Simon J Heales Masakazu Kohda Akira Ohtake Kei Murayama Yasushi Okazaki Anne Lombès Ian J Holt David R Thorburn Antonella Spinazzola

Brain 2017 Jun;140(6):1595-1610

Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF, UK.

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http://dx.doi.org/10.1093/brain/awx094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5445257PMC
June 2017

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

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

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.

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

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

Mitochondrial diseases.

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

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

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

Authors:
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

Eur J Hum Genet 2016 01 19;25(1):79-84. Epub 2016 Oct 19.

Disciplines of Paediatrics and Child Health, University of Sydney, Sydney, NSW, Australia.

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http://dx.doi.org/10.1038/ejhg.2016.128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5159763PMC
January 2016

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

Authors:
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

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

Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease.

Authors:
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

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

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

Authors:
Charlotte L Alston Alison G Compton Luke E Formosa Valentina Strecker Monika Oláhová Tobias B Haack Joél Smet Katrien Stouffs Peter Diakumis Elżbieta Ciara David Cassiman Nadine Romain John W Yarham Langping He Boel De Paepe Arnaud V Vanlander Sara Seneca René G Feichtinger Rafal Płoski Dariusz Rokicki Ewa Pronicka Ronald G Haller Johan L K Van Hove Melanie Bahlo Johannes A Mayr Rudy Van Coster Holger Prokisch Ilka Wittig Michael T Ryan David R Thorburn Robert W Taylor

Am J Hum Genet 2016 Jul 30;99(1):217-27. Epub 2016 Jun 30.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University Medical School, Newcastle upon Tyne NE2 4HH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.05.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5005451PMC
July 2016

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.

Authors:
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

JIMD Rep 2017 26;32:117-124. Epub 2016 Jun 26.

Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children's Hospital at Westmead, Locked Bag 4001, Sydney, NSW, 2145, Australia.

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http://dx.doi.org/10.1007/8904_2016_541DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5362551PMC
June 2016

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

Authors:
Charlotte L Alston Caoimhe Howard Monika Oláhová Steven A Hardy Langping He Philip G Murray Siobhan O'Sullivan Gary Doherty Julian P H Shield Iain P Hargreaves Ardeshir A Monavari Ina Knerr Peter McCarthy Andrew A M Morris David R Thorburn Holger Prokisch Peter E Clayton Robert McFarland Joanne Hughes Ellen Crushell Robert W Taylor

J Med Genet 2016 09 18;53(9):634-41. Epub 2016 Apr 18.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1136/jmedgenet-2015-103576DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5013090PMC
September 2016

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

Authors:
Melinda T Coughlan Tuong-Vi Nguyen 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

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

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

Authors:
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 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 Merlin C Thomas George Jerums Richard J Macisaac Alison Skene David A Power Elif I Ekinci Xiaonan W Wijeyeratne Linda A Gallo Michal Herman-Edelstein Michael T Ryan Mark E Cooper David R Thorburn Josephine M Forbes

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

MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria.

Authors:
Ilaria Dalla Rosa Yolanda Cámara 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 Martí Peter Voshol Ian J Holt Antonella Spinazzola

PLoS Genet 2016 Jan 13;12(1):e1005779. Epub 2016 Jan 13.

MRC Mill Hill Laboratory, London, United Kingdom.

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http://dx.doi.org/10.1371/journal.pgen.1005779DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4711891PMC
January 2016

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

Authors:
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

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

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

Authors:
Lisa G Riley Joëlle 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

JIMD Rep 2016 5;28:49-57. Epub 2015 Nov 5.

Genetic Metabolic Disorders Research Unit, Kids Research Institute, Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW, 2145, Australia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5059179PMC
http://dx.doi.org/10.1007/8904_2015_515DOI Listing
November 2015

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

Authors:
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

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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http://dx.doi.org/10.1016/j.mito.2015.10.008DOI Listing
November 2015

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

Authors:
Nicole J Lake Alison G Compton Shamima Rahman David R Thorburn

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

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

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

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

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

Authors:
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

Am J Med Genet A 2015 Jun 21;167(6):1330-6. Epub 2015 Apr 21.

SA Pathology, Women's and Children's Hospital, North Adelaide, Australia.

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http://dx.doi.org/10.1002/ajmg.a.36968DOI Listing
June 2015

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

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

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://dx.doi.org/10.1016/j.cmet.2015.03.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4663978PMC
April 2015

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

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

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

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

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

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

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect.

Authors:
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

Neuromuscul Disord 2015 Mar 10;25(3):257-61. Epub 2014 Dec 10.

BGI-Shenzhen, Shenzhen 518083, China; The Guangdong Enterprise Key Laboratory of Human Disease Genomics, BGI-Shenzhen, Shenzhen, China.

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http://dx.doi.org/10.1016/j.nmd.2014.11.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5642298PMC
March 2015

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

Authors:
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

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

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

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

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

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

Authors:
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

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

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

Authors:
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

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

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

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

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

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

Authors:
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

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

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

Authors:
Elena J Tucker Bas F J Wanschers Radek Szklarczyk Hayley S Mountford Xiaonan W Wijeyeratne Mariël A M van den Brand Anne M Leenders Richard J Rodenburg Boris Reljić 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

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

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

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

Hum Mol Genet 2014 Apr 23;23(8):2106-19. Epub 2013 Dec 23.

INSERM U747, Université Paris Descartes, Paris, France.

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https://hmg.oxfordjournals.org/content/early/2013/12/19/hmg.
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddt603
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http://dx.doi.org/10.1093/hmg/ddt603DOI Listing
April 2014

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

Authors:
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

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

Fumarase deficiency in dichorionic diamniotic twins.

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

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

Modelling biochemical features of mitochondrial neuropathology.

Authors:
Matthew J Bird David R Thorburn Ann E Frazier

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

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

Authors:
Pauline Gaignard Minal Menezes Manuel Schiff Aurélien Bayot Malgorzata Rak Hélène Ogier 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 J N Allcock Nina Kresoje Nigel G Laing David R Thorburn Abdelhamid Slama John Christodoulou Pierre Rustin

Am J Hum Genet 2013 Aug 1;93(2):384-9. Epub 2013 Aug 1.

Laboratoire de Biochimie, Hôpital de Bicêtre, Assistance Publique - Hôpitaux de Paris, 78 Rue du Général Leclerc, 94275 Le Kremlin Bicêtre Cedex, France.

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http://dx.doi.org/10.1016/j.ajhg.2013.06.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738829PMC
August 2013

SURF1 deficiency: a multi-centre natural history study.

Authors:
Yehani Wedatilake Ruth M Brown Robert McFarland Joy Yaplito-Lee Andrew A M 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

Orphanet J Rare Dis 2013 Jul 5;8:96. Epub 2013 Jul 5.

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http://dx.doi.org/10.1186/1750-1172-8-96DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3706230PMC
July 2013

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

Authors:
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 Leimkühler David R Thorburn Alison G Compton

Hum Mol Genet 2013 Nov 28;22(22):4460-73. Epub 2013 Jun 28.

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

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http://dx.doi.org/10.1093/hmg/ddt295DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3888131PMC
November 2013

Targeted exome sequencing of suspected mitochondrial disorders.

Authors:
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

Neurology 2013 May 17;80(19):1762-70. Epub 2013 Apr 17.

Department of Molecular Biology, Massachusetts General Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1212/WNL.0b013e3182918c40DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3719425PMC
May 2013

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

Authors:
Shamima Rahman David R Thorburn

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.

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

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

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

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

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

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

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

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

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.

Authors:
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 René P Zahedi James J Pitt Roman Chrast Albert Sickmann Michael T Ryan Gordon K Smyth David R Thorburn Hamish S Scott

J Biol Chem 2012 Jun 25;287(24):20652-63. Epub 2012 Apr 25.

Molecular Medicine Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia.

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http://dx.doi.org/10.1074/jbc.M111.327601DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3370248PMC
June 2012

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

Authors:
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 M H Cheung Joseph J Smolich David R Thorburn

Proc Natl Acad Sci U S A 2012 Apr 2;109(16):6165-70. Epub 2012 Apr 2.

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

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http://dx.doi.org/10.1073/pnas.1113987109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3341001PMC
April 2012

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.

Authors:
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

Sci Transl Med 2012 Jan;4(118):118ra10

Center for Human Genetic Research and Department of Molecular Biology, Massachusetts General Hospital, 185 Cambridge Street, Sixth Floor, Boston, MA 02114, USA.

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http://dx.doi.org/10.1126/scitranslmed.3003310DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3523805PMC
January 2012

Biochemical analyses of the electron transport chain complexes by spectrophotometry.

Authors:
Ann E Frazier David R Thorburn

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.

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

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.

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

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

Understanding mitochondrial complex I assembly in health and disease.

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

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

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

Authors:
Elena J Tucker Steven G Hershman Caroline Köhrer 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

Cell Metab 2011 Sep;14(3):428-34

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

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http://dx.doi.org/10.1016/j.cmet.2011.07.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3486727PMC
September 2011

The molecular basis of human complex I deficiency.

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

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

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

Authors:
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

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

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.

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

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

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.

Authors:
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

Genet Med 2011 May;13(5):392-9

School of Psychological Science, La Trobe University, Melbourne, Victoria, Australia.

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http://www.nature.com/doifinder/10.1097/GIM.0b013e3182064362
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http://dx.doi.org/10.1097/GIM.0b013e3182064362DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4022481PMC
May 2011

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

Authors:
Helen A L 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 M A Chrzanowska-Lightowlers David R Thorburn Robert McFarland Robert W Taylor

Brain 2010 Oct 6;133(10):2952-63. Epub 2010 Sep 6.

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

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http://dx.doi.org/10.1093/brain/awq232DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2947428PMC
October 2010

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

Authors:
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

Nat Genet 2010 Oct 5;42(10):851-8. Epub 2010 Sep 5.

Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.659DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2977978PMC
October 2010

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

Authors:
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

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.

Authors:
Elena J Tucker Alison G Compton David R Thorburn

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.

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

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.

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

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

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

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

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

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

Authors:
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

Am J Hum Genet 2008 Oct;83(4):468-78

Mitochondrial and Metabolic Research Group, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.

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http://dx.doi.org/10.1016/j.ajhg.2008.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2561934PMC
October 2008

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

Authors:
Jörg-Detlef Drenckhahn Quenten P Schwarz Stephen Gray Adrienne Laskowski Helen Kiriazis Ziqiu Ming Richard P Harvey Xiao-Jun Du David R Thorburn Timothy C Cox

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.

Authors:
Denise M Kirby David R Thorburn

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

A mitochondrial protein compendium elucidates complex I disease biology.

Authors:
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

Cell 2008 Jul;134(1):112-23

Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.

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http://dx.doi.org/10.1016/j.cell.2008.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2778844PMC
July 2008

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

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

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.

Authors:
Michael Lazarou David R Thorburn Michael T Ryan Matthew McKenzie

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

Ophthalmologic presentation of oxidative phosphorylation diseases of childhood.

Authors:
Loreto V T Rose Nectarios T Rose James E Elder David R Thorburn Avihu Boneh

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.

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

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

Biochemical assays of respiratory chain complex activity.

Authors:
Denise M Kirby David R Thorburn Douglass M Turnbull Robert W Taylor

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

Authors:
Michael Lazarou Matthew McKenzie Akira Ohtake David R Thorburn Michael T Ryan

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

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

Authors:
Anna H Hakonen Guido Davidzon Renato Salemi Laurence A Bindoff Gert Van Goethem Salvatore Dimauro David R Thorburn Anu Suomalainen

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

Authors:
Matthew McKenzie Michael Lazarou David R Thorburn Michael T Ryan

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