Mitochondrial dysfunction in a novel form of autosomal recessive ataxia

Mitochondrion

Volumn 13, Issue 3, 2013, Pages 235-245

  Murad, Nor Azian Abdul ^a,b   Cullen, Jason K ^a   McKenzie, Matthew ^c   Ryan, Michael T ^d   Thorburn, David ^e,f   Gueven, Nuri ^g   Kobayashi, Junya ^h   Birrell, Geoff ⁱ   Yang, Jian ^a   Dörk, Thilo ^j   Becherel, Olivier ^a,k   Grattan Smith, Padraic ^l   Lavin, Martin F ^a,m  

^a QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^b UNIVERSITI KEBANGSAAN MALAYSIA   (Malaysia)

^c HUDSON INSTITUTE OF MEDICAL RESEARCH   (Australia)

^d LA TROBE UNIVERSITY   (Australia)

^e MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^f UNIVERSITY OF MELBOURNE   (Australia)

^g UNIVERSITY OF TASMANIA   (Australia)

^h KYOTO UNIVERSITY   (Japan)

ⁱ Gallipoli Barracks   (Australia)

^j HANNOVER MEDICAL SCHOOL   (Germany)

^k UNIVERSITY OF QUEENSLAND   (Australia)

^l WESTMEAD HOSPITAL   (Australia)

^m UNIVERSITY OF QUEENSLAND   (Australia)

more..

Author keywords

Ataxia; DNA damage; Mitochondria

Indexed keywords

4 HYDROXYNONENAL; ACRIDINE ORANGE; CYTOCHROME B; MITOCHONDRIAL PROTEIN; PROPIDIUM IODIDE; REACTIVE OXYGEN METABOLITE; MITOCHONDRIAL DNA; PROTEIN P53; TP53 PROTEIN, HUMAN;

APTX GENE; ATAXIA; ATM GENE; AUTOSOMAL RECESSIVE ATAXIA; COMPLEX FORMATION; CONTROLLED STUDY; CYTOCHROME B GENE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA SEQUENCE; ELECTRON TRANSPORT; FEMALE; FIBROBLAST; FLOW CYTOMETRY; FLUORESCENCE MICROSCOPY; GENE; GENE IDENTIFICATION; HUMAN; HUMAN CELL; IMMUNOBLOTTING; LIPID PEROXIDATION; LYMPHOBLASTOID CELL; MALE; MASS SPECTROMETRY; MITOCHONDRIAL MEMBRANE POTENTIAL; MUTATIONAL ANALYSIS; NATIVE POLYACRYLAMIDE GEL ELECTROPHORESIS; OXIDATIVE PHOSPHORYLATION; PRIORITY JOURNAL; REVIEW; RNA SYNTHESIS; SETX GENE; TWO DIMENSIONAL GEL ELECTROPHORESIS; WESTERN BLOTTING; AMINO ACID SUBSTITUTION; ANIMAL; CHROMOSOME DISORDER; GENETICS; METABOLISM; MISSENSE MUTATION; MITOCHONDRION; NUCLEOTIDE SEQUENCE; OXIDATIVE STRESS; PATHOLOGY; PROTEIN STABILITY;

AMINO ACID SUBSTITUTION; ANIMALS; ATAXIA; CHROMOSOME DISORDERS; CYTOCHROMES B; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT; HUMANS; MEMBRANE POTENTIAL, MITOCHONDRIAL; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MUTATION, MISSENSE; OXIDATIVE STRESS; PROTEIN STABILITY; REACTIVE OXYGEN SPECIES; TUMOR SUPPRESSOR PROTEIN P53;

EID: 84883750713     PISSN: 15677249     EISSN: 18728278     Source Type: Journal    
DOI: 10.1016/j.mito.2012.11.006     Document Type: Review

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