Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3

Nature Communications

Volumn 7, Issue , 2016, Pages

  Van Haute, Lindsey ^a   Dietmann, Sabine ^b   Kremer, Laura ^c,d   Hussain, Shobbir ^e   Pearce, Sarah F ^a   Powell, Christopher A ^a   Rorbach, Joanna ^a   Lantaff, Rebecca ^b   Blanco, Sandra ^b   Sauer, Sascha ^f,g,h   Kotzaeridou, Urania ⁱ   Hoffmann, Georg F ⁱ   Memari, Yasin ^j   Kolb Kokocinski, Anja ^j   Durbin, Richard ^j   Mayr, Johannes A ^k   Frye, Michaela ^b   Prokisch, Holger ^c,d   Minczuk, Michal ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

^d TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^e University of Bath   (United Kingdom)

^f MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^g UNIVERSITY OF WÜRZBURG   (Germany)

^h BERLIN INSTITUTE OF HEALTH   (Germany)

ⁱ UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^j WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^k PARACELSUS MEDICAL UNIVERSITY   (Austria)

more..

Author keywords

[No Author keywords available]

Indexed keywords

5 FORMYLCYTOSINE; CYTOSINE; METHIONINE; METHYLTRANSFERASE; MITOCHONDRIAL RNA; NSUN3 PROTEIN; TRANSFER RNA; UNCLASSIFIED DRUG; NSUN3 PROTEIN, HUMAN;

AMINO ACID; GENE EXPRESSION; GENETIC ANALYSIS; METABOLISM; METHYLATION; MITOCHONDRIAL DNA; RESPIRATORY DISEASE;

ANTICODON; ARTICLE; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FIBROBLAST; FORMYLATION; HUMAN; HUMAN CELL; HUMAN TISSUE; LOSS OF FUNCTION MUTATION; MUTATION; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN SYNTHESIS; RESPIRATORY CHAIN; RNA METHYLATION; RNA TRANSLATION; SEQUENCE ANALYSIS; CASE REPORT; GENE EXPRESSION REGULATION; GENETICS; HEK293 CELL LINE; HELA CELL LINE; METABOLISM; METHYLATION; MITOCHONDRION;

GENE EXPRESSION REGULATION; HEK293 CELLS; HELA CELLS; HUMANS; METHYLATION; METHYLTRANSFERASES; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MUTATION; RNA, TRANSFER;

EID: 84977138242     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms12039     Document Type: Article

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