The altered activity of complex III may contribute to the high penetrance of Leber's hereditary optic neuropathy in a Chinese family carrying the ND4 G11778A mutation

Mitochondrion

Volumn 11, Issue 6, 2011, Pages 871-877

  Qian, Yaping ^a   Zhou, Xiangtian ^b   Liang, Min ^b   Qu, Jia ^b,c   Guan, Min Xin ^a,b,c  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^b WENZHOU MEDICAL UNIVERSITY   (China)

^c Zhejiang University   (China)

Author keywords

Chinese; Complex I; Complex III; Leber's optic neuropathy; Mitochondrion; Mutaion; Penetrance

Indexed keywords

ADENOSINE TRIPHOSPHATE; MITOCHONDRIAL DNA; OXYGEN; REACTIVE OXYGEN METABOLITE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE;

ADENOSINE TRIPHOSPHATE SYNTHESIS; ADOLESCENT; ADULT; AGED; ARTICLE; CELL ACTIVITY; CELL MUTANT; CELL RESPIRATION; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA CONTENT; ENZYME ACTIVITY; FAMILY STUDY; GENE; GENE MUTATION; HAPLOTYPE; HETEROZYGOTE; HUMAN; HUMAN CELL; LEBER HEREDITARY OPTIC NEUROPATHY; LYMPHOBLASTOID CELL LINE; MITOCHONDRION; ND4 GENE; OXYGEN CONSUMPTION; PEDIGREE; PENETRANCE; PRIORITY JOURNAL; SYNTHESIS;

ADENOSINE TRIPHOSPHATE; ADOLESCENT; ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; CELLS, CULTURED; ELECTRON TRANSPORT COMPLEX III; FAMILY HEALTH; HUMANS; LYMPHOCYTES; MIDDLE AGED; MUTATION, MISSENSE; NADH DEHYDROGENASE; OPTIC ATROPHY, HEREDITARY, LEBER; PENETRANCE; YOUNG ADULT;

EID: 82755197940     PISSN: 15677249     EISSN: 18728278     Source Type: Journal    
DOI: 10.1016/j.mito.2011.06.006     Document Type: Article

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