Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency

American Journal of Human Genetics

Volumn 91, Issue 5, 2012, Pages 912-918

  Vedrenne, Vanessa ^a   Gowher, Ali ^b   De Lonlay, Pascale ^c   Nitschke, Patrick ^a   Serre, Valérie ^a   Boddaert, Nathalie ^c   Altuzarra, Cecilia ^d   Mager Heckel, Anne Marie ^b   Chretien, Florence ^a   Entelis, Nina ^b   Munnich, Arnold ^a,c   Tarassov, Ivan ^b   Rötig, Agnès ^a  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b UNIVERSITÉ DE STRASBOURG   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d HÔPITAL SAINT JACQUES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

POLYRIBONUCLEOTIDE NUCLEOTIDYLTRANSFERASE; POLYRIBONUCLEOTIDE NUCLEOTIDYLTRANSFERASE 1; RNA 5S; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CHILD; CHOREOATHETOSIS; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DYSKINESIA; DYSPHAGIA; DYSTONIA; EATING DISORDER; FEMALE; FIBROBLAST; GENE MUTATION; GENE OVEREXPRESSION; GENETIC DISORDER; HUMAN; HYPOTROPHY; MALE; MITOCHONDRIAL TRANSLATION DEFICIENCY; MITOCHONDRION; MUSCLE ATROPHY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; PRIORITY JOURNAL; RESPIRATORY CHAIN; RESPIRATORY CHAIN DEFICIENCY; RNA HYBRIDIZATION; RNA TRANSPORT; TENOTOMY; VOMITING;

ADOLESCENT; BRAIN; CHILD, PRESCHOOL; DNA, MITOCHONDRIAL; EXONS; EXORIBONUCLEASES; FEMALE; HEP G2 CELLS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MITOCHONDRIAL DISEASES; MUTATION; RNA INTERFERENCE; RNA TRANSPORT; RNA, RIBOSOMAL; RNA, TRANSFER;

MAMMALIA;

EID: 84868456264     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.09.001     Document Type: Article

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