The 3′ addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1

Human Molecular Genetics

Volumn 24, Issue 10, 2015, Pages 2841-2847

  Sasarman, Florin ^a,b   Thiffault, Isabelle ^b,d   Weraarpachai, Woranontee ^a   Salomon, Steven ^a   Maftei, Catalina ^b   Gauthier, Julie ^b   Ellazam, Benjamin ^c   Webb, Neil ^a,b   Antonicka, Hana ^a   Janer, Alexandre ^a   Brunel Guitton, Catherine ^b   Elpeleg, Orly ^e   Mitchell, Grant ^b   Shoubridge, Eric A ^a  

^a MCGILL UNIVERSITY   (Canada)

^b UNIVERSITÉ DE MONTRÉAL   (Canada)

^c UNIVERSITY OF MONTREAL   (Canada)

^d CHILDREN S MERCY HOSPITAL   (United States)

^e HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; MITOCHONDRIAL RNA; NUCLEOTIDYLTRANSFERASE; TRANSFER RNA; RNA POLYMERASE; SERINE TRANSFER RNA; TRNA NUCLEOTIDYLTRANSFERASE;

ARTICLE; BRAIN STEM; CELL CULTURE; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CLINICAL FEATURE; CODON; DENTATE NUCLEUS; ELECTRON MICROSCOPY; EXOME; FANCONI RENOTUBULAR SYNDROME; FETUS GROWTH; GENE MUTATION; GENE SEQUENCE; HYPERLACTATEMIA; IMMUNOBLOTTING; LACTIC ACIDOSIS; LETHALITY; METABOLIC ACIDOSIS; MICROCEPHALY; MOLECULAR GENETICS; MUSCLE HYPOTONIA; NORTHERN BLOTTING; OPHTHALMOPLEGIA; OXIDATIVE PHOSPHORYLATION; PHENOTYPE; PRIORITY JOURNAL; RNA INTERFERENCE; SIDEROBLASTIC ANEMIA; TISSUE DISTRIBUTION; CASE REPORT; CHILD; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA SEQUENCE; FEMALE; GENETICS; HUMAN; INFANT; MALE; METABOLISM; MITOCHONDRION; MUTATION; NEWBORN; PRESCHOOL CHILD; PROTEIN SYNTHESIS; SYNDROME;

CHILD; CHILD, PRESCHOOL; EXOME; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MUTATION; PROTEIN BIOSYNTHESIS; RNA NUCLEOTIDYLTRANSFERASES; RNA, TRANSFER, SER; SEQUENCE ANALYSIS, DNA; SYNDROME;

EID: 84929724879     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv044     Document Type: Article

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