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Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency.
Vedrenne, Vanessa; Gowher, Ali; De Lonlay, Pascale; Nitschke, Patrick; Serre, Valérie; Boddaert, Nathalie; Altuzarra, Cecilia; Mager-Heckel, Anne-Marie; Chretien, Florence; Entelis, Nina; Munnich, Arnold; Tarassov, Ivan; Rötig, Agnès.
Affiliation
  • Vedrenne V; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine and INSERM U781, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, Paris, France.
Am J Hum Genet ; 91(5): 912-8, 2012 Nov 02.
Article in En | MEDLINE | ID: mdl-23084291
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA, Mitochondrial / Mitochondrial Diseases / RNA Transport / Exoribonucleases / Mutation Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies Limits: Adolescent / Child, preschool / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2012 Document type: Article Affiliation country: France Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA, Mitochondrial / Mitochondrial Diseases / RNA Transport / Exoribonucleases / Mutation Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies Limits: Adolescent / Child, preschool / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2012 Document type: Article Affiliation country: France Country of publication: United States