Identification of ataxia-associated mtDNA mutations (m.4052T>C and m.9035T>C) and evaluation of their pathogenicity in transmitochondrial cybrids

Muscle and Nerve

Volumn 40, Issue 3, 2009, Pages 381-394

  Sikorska, Marianna ^a   Sandhu, Jagdeep K ^a   Simon, David K ^b   Pathiraja, Vimukthi ^b   Sodja, Caroline ^a   Li, Yan ^a   Ribecco Lutkiewicz, Maria ^a   Lanthier, Patricia ^a   Borowy Borowski, Henryk ^a   Upton, Adrian ^c   Raha, Sandeep ^c   Pulst, Stefan M ^d   Tarnopolsky, Mark A ^c  

^a NATIONAL RESEARCH COUNCIL CANADA   (Canada)

^b HARVARD MEDICAL SCHOOL   (United States)

^c MCMASTER UNIVERSITY   (Canada)

^d CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

Antioxidant; Homoplasmic mutations; Mitochondrial; Oxidative stress; Therapy

Indexed keywords

ALPHA TOCOPHEROL; MITOCHONDRIAL DNA; OLIGOMYCIN; REACTIVE OXYGEN METABOLITE; TRANSFER RNA; UBIDECARENONE;

APOPTOSIS; ARTICLE; ATAXIA; CELL DEATH; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; ENZYME ACTIVITY; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; HUMAN TISSUE; MITOCHONDRIAL MEMBRANE POTENTIAL; MUTANT; NECROSIS; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PRIORITY JOURNAL; STEADY STATE;

ADENOSINE TRIPHOSPHATE; ADULT; ANALYSIS OF VARIANCE; ANTIOXIDANTS; ATAXIA; CASPASE 3; CELL LINE, TRANSFORMED; CELL LINE, TUMOR; CHILD, PRESCHOOL; COGNITION DISORDERS; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FAMILY HEALTH; FEMALE; GENE EXPRESSION REGULATION; GLIOBLASTOMA; HUMANS; MALE; MEMBRANE POTENTIAL, MITOCHONDRIAL; MIDDLE AGED; MITOCHONDRIAL DISEASES; POLYMORPHISM, GENETIC; REACTIVE OXYGEN SPECIES; VITAMINS;

EID: 69749100400     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21355     Document Type: Article

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