Repopulation of ρ0 cells with mitochondria from a patient with a mitochondrial dna point mutation in tRNA(Gly) results in respiratory chain dysfunction

Human Mutation

Volumn 13, Issue 3, 1999, Pages 245-254

  Raha, Sandeep ^a   Merante, Frank ^b   Shoubridge, Eric ^c,d   Myint, A Tomoko ^a   Tein, Ingrid ^e   Benson, Lee ^e   Johns, Tim ^c,d   Robinson, Brian H ^a,f  

^a UNIVERSITY OF TORONTO   (Canada)

^b TORONTO GENERAL HOSPITAL   (Canada)

^c MCGILL UNIVERSITY   (Canada)

^d MCGILL UNIVERSITY   (Canada)

^e UNIVERSITY OF TORONTO   (Canada)

^f HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

Author keywords

Cybrid analysis; Hypertrophic cardiomyopathy; Mitochondrial tRNA mutation; Respiratory chain defects

Indexed keywords

MITOCHONDRIAL DNA; TRANSFER RNA; CITRATE SYNTHASE; GLYCINE; GLYCINE TRANSFER RNA; LACTIC ACID; MULTIENZYME COMPLEX; OXIDOREDUCTASE; PYRUVIC ACID; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE (PHOSPHATE) DEHYDROGENASE (QUINONE); REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; SUCCINATE DEHYDROGENASE; SUCCINATE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE;

ARTICLE; CELL POPULATION; DNA DETERMINATION; FAMILIAL DISEASE; GENE MUTATION; HUMAN; HUMAN CELL; HYPERTROPHIC CARDIOMYOPATHY; MITOCHONDRION; PRIORITY JOURNAL; RESPIRATORY CHAIN; BIOLOGICAL MODEL; COMPARATIVE STUDY; ELECTRON TRANSPORT; ENZYMOLOGY; FIBROBLAST; GENETICS; HYBRID CELL; METABOLISM; PHENOTYPE; PHYSIOLOGY; POINT MUTATION; SOUTHERN BLOTTING;

BLOTTING, SOUTHERN; CARDIOMYOPATHY, HYPERTROPHIC; CITRATE (SI)-SYNTHASE; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT; ELECTRON TRANSPORT COMPLEX II; ELECTRON TRANSPORT COMPLEX III; FIBROBLASTS; GLYCINE; HUMANS; HYBRID CELLS; LACTIC ACID; MODELS, GENETIC; MULTIENZYME COMPLEXES; NADH DEHYDROGENASE; OXIDOREDUCTASES; PHENOTYPE; POINT MUTATION; PYRUVIC ACID; QUINONE REDUCTASES; RNA, TRANSFER, GLY; SUCCINATE DEHYDROGENASE;

EID: 0032588634     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)13:3<245::AID-HUMU9>3.0.CO;2-B     Document Type: Article

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