The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2

Human Molecular Genetics

Volumn 17, Issue 23, 2008, Pages 3697-3707

  Sasarman, Florin ^a   Antonicka, Hana ^a   Shoubridge, Eric A ^a,b  

^a MCGILL UNIVERSITY   (Canada)

^b MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; BIOLOGICAL FACTOR; CYTOCHROME C OXIDASE; ELONGATION FACTOR; ELONGATION FACTOR G1; ELONGATION FACTOR G2; ELONGATION FACTOR TS; ELONGATION FACTOR TU; GLYCINE; LEUCINE; LEUCINE TRANSFER RNA; PHENYLALANINE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); TRITIUM; UNCLASSIFIED DRUG; AMINO ACID; EFG2 PROTEIN, HUMAN; ELONGATION FACTOR G; MITOCHONDRIAL PROTEIN; MULTIENZYME COMPLEX; TUFM PROTEIN, HUMAN; TUMOR ANTIGEN;

ARTICLE; CASE REPORT; CELL ISOLATION; CELL LABELING; CODON; DISEASE SEVERITY; FEMALE; GEL ELECTROPHORESIS; GENE MUTATION; GENE OVEREXPRESSION; HUMAN; HUMAN CELL; HYPOTHESIS; MELAS SYNDROME; MUTANT; MYOBLAST; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN SYNTHESIS; RESPIRATORY CHAIN; CELL CULTURE; CHEMISTRY; CHILD; GENE EXPRESSION; GENETICS; METABOLISM; MISSENSE MUTATION; MITOCHONDRION; PROTEIN STABILITY;

AMINO ACIDS; ANTIGENS, NEOPLASM; CELLS, CULTURED; CHILD; ELECTRON TRANSPORT CHAIN COMPLEX PROTEINS; FEMALE; GENE EXPRESSION; HUMANS; MELAS SYNDROME; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; MUTATION, MISSENSE; MYOBLASTS; PEPTIDE ELONGATION FACTOR G; PEPTIDE ELONGATION FACTOR TU; PROTEIN BIOSYNTHESIS; PROTEIN STABILITY; RNA, TRANSFER, LEU;

EID: 56049087303     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn265     Document Type: Article

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