Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency

Human Molecular Genetics

Volumn 22, Issue 22, 2013, Pages 4602-4615

  Boczonadi, Veronika ^a,d   Smith, Paul M ^a,d   Pyle, Angela ^a,d   Gomez Duran, Aurora ^a   Schara, Ulrike ^b   Tulinius, Mar ^c   Chinnery, Patrick F ^a   Horvath, Rita ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b UNIVERSITY OF DUISBURG ESSEN   (Germany)

^c UNIVERSITY OF GOTHENBURG   (Sweden)

^d UNIVERSITY OF DUNDEE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

5 METHYLAMINOMETHYL 2 THIOURIDYLATE METHYLTRANSFERASE; CYSTEINE; METHYLTRANSFERASE; TRANSFER RNA; UNCLASSIFIED DRUG;

5 METHYLAMINOMETHYL 2 THIOURIDYLATE METHYLTRANSFERASE DEFICIENCY; ARTICLE; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DOWN REGULATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; FOLLOW UP; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO STUDY; PRIORITY JOURNAL; RESPIRATORY CHAIN; REVERSIBLE INFANTILE RESPIRATORY CHAIN DEFICIENCY; SKELETAL MUSCLE; STEADY STATE;

CELL LINE; CYSTEINE; GENE EXPRESSION REGULATION; HUMANS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MITOCHONDRIAL PROTEINS; MUSCLE, SKELETAL; MUTATION; MYOBLASTS; OXIDATIVE PHOSPHORYLATION; PROTEIN BIOSYNTHESIS; RNA, TRANSFER; THIOURIDINE; TRNA METHYLTRANSFERASES;

EID: 84886997052     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt309     Document Type: Article

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