Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis

Journal of Clinical Investigation

Volumn 126, Issue 3, 2016, Pages 992-996

  Schoenmakers, Erik ^a   Carlson, Bradley ^b   Agostini, Maura ^a   Moran, Carla ^a   Rajanayagam, Odelia ^a   Bochukova, Elena ^a   Tobe, Ryuta ^b   Peat, Rachel ^c   Gevers, Evelien ^d   Muntoni, Francesco ^e   Guicheney, Pascale ^c   Schoenmakers, Nadia ^a   Farooqi, Sadaf ^a   Lyons, Greta ^a   Hatfield, Dolph ^b   Chatterjee, Krishna ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b NATIONAL CANCER INSTITUTE   (United States)

^c SORBONNE UNIVERSITÉ   (France)

^d ROYAL LONDON HOSPITAL   (United Kingdom)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

LIOTHYRONINE; NUCLEOTIDE; SELENIUM; SELENOCYSTEINE; SELENOCYSTEINE TRANSFER RNA; SELENOPROTEIN; THYROXINE; TRANSFER RNA; UNCLASSIFIED DRUG; URIDINE; TRNA, SELENOCYSTEINE-;

ABDOMINAL PAIN; ANTICODON; ARTICLE; BLOOD LEVEL; CASE REPORT; CHILD; CODON; CONTROLLED STUDY; EXOME; FATIGUE; GENE LOCUS; GENE MUTATION; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; MALE; METHYLRIBOSYLATION; MUSCLE WEAKNESS; PRIMARY CELL; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN MODIFICATION; PROTEIN SYNTHESIS; QUANTITATIVE ANALYSIS; SCHOOL CHILD; SIBLING; THYROID DISEASE; BLOOD; DEFICIENCY; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDY; GENETIC DISEASES, INBORN; GENETICS; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; POINT MUTATION; SINGLE NUCLEOTIDE POLYMORPHISM;

BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDIES; GENETIC DISEASES, INBORN; HUMANS; MALE; MOLECULAR SEQUENCE DATA; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN BIOSYNTHESIS; RNA, TRANSFER, AMINO ACID-SPECIFIC; SELENOPROTEINS;

EID: 84959893617     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI84747     Document Type: Article

References (11)

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