Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A>G tRNALeu mutation

Journal of Medical Genetics

Volumn 45, Issue 8, 2008, Pages 525-534

  van Eijsden, R G E ^a,b   Eijssen, L M T ^a   Lindsey, P J ^a   van den Burg, C M M ^a   de Wit, L E A ^c   Rubio Gozalbo, M E ^a   de Die, C E M ^a   Ayoubi, T ^a,d   Sluiter, W ^c   de Coo, I F M ^c   Smeets, H J M ^a  

^a MAASTRICHT UNIVERSITY   (Netherlands)

^b DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d MAASTRICHT UNIVERSITY   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL RNA; REACTIVE OXYGEN METABOLITE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUPEROXIDE; TRANSFER RNA;

ADOLESCENT; ADULT; AGED; APOPTOSIS; ARTICLE; CLINICAL ARTICLE; COMPLEMENT ACTIVATION; COMPLEMENT SYSTEM; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; DOWN REGULATION; FEMALE; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENE MUTATION; HUMAN; HUMAN TISSUE; MALE; MARKER GENE; MELAS SYNDROME; MICROARRAY ANALYSIS; MUSCLE BIOPSY; MUSCLE REGENERATION; OXIDATIVE STRESS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN METABOLISM; REAL TIME POLYMERASE CHAIN REACTION; SKELETAL MUSCLE; UPREGULATION;

ADOLESCENT; ADULT; AGED; APOPTOSIS; CHILD; CHILD, PRESCHOOL; COMPLEMENT ACTIVATION; FEMALE; GENE EXPRESSION PROFILING; HETEROZYGOTE; HUMANS; MALE; MELAS SYNDROME; MIDDLE AGED; MUSCLE, SKELETAL; OXIDATIVE PHOSPHORYLATION; POINT MUTATION; PROTEINS; RNA, TRANSFER, LEU;

EID: 50049107062     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2008.057497     Document Type: Article

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