Publications by authors named "Alison G Compton"

34Publications

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

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

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 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

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

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.

Hum Mol Genet 2015 Apr 11;24(7):2000-10. Epub 2014 Dec 11.

Women's and Children's Health Research Institute, North Adelaide and Discipline of Medicine, School of Paediatrics and Reproductive Health, Robinson Research Institute and, School of Molecular and Biomedical Sciences, The University of Adelaide, Adelaide, SA, Australia,

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http://hmg.oxfordjournals.org/content/early/2015/01/07/hmg.d
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu614
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http://dx.doi.org/10.1093/hmg/ddu614DOI Listing
April 2015

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

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

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

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

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

Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients.

Acta Neuropathol 2008 Sep 8;116(3):235-46. Epub 2008 Apr 8.

Kids Heart Research, The Children's Hospital at Westmead, Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Locked Bag 4001, Westmead, Sydney, NSW, 2145, Australia.

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http://dx.doi.org/10.1007/s00401-008-0369-zDOI Listing
September 2008

Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.

Neuromuscul Disord 2008 Jan 25;18(1):34-44. Epub 2007 Sep 25.

Institute for Neuromuscular Research, The Children's Hospital at Westmead, Sydney, Australia.

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http://dx.doi.org/10.1016/j.nmd.2007.08.009DOI Listing
January 2008

The syntrophin-dystrobrevin subcomplex in human neuromuscular disorders.

J Neuropathol Exp Neurol 2005 Apr;64(4):350-61

Institute for Neuromuscular Research, Children's Hospital at Westmead, NSW, Australia.

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http://dx.doi.org/10.1093/jnen/64.4.350DOI Listing
April 2005

Expression of aquaporin 1 in human cardiac and skeletal muscle.

J Mol Cell Cardiol 2004 May;36(5):655-62

Neurogenetics Research Unit and Institute for Neuromuscular Research, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.

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http://dx.doi.org/10.1016/j.yjmcc.2004.01.009DOI Listing
May 2004