A mutation in the SEPN1 SRE reduces selenocysteine incorporation and leads to SEPN1-related myopathy

Mutations in SEPN1 result in a spectrum of early onset muscle disorders referred to as SEPN1-related myopathy. The SEPN1 gene encodes selenoprotein N (SelN), which contains the amino acid selenocysteine (Sec). Incorporation of Sec occurs due to redefinition of a UGA codon during translation. Efficie...

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Hauptverfasser: Maiti, Baijayanta, Arbogast, Sandrine, Allamand, Valérie, Moyle, Mark, Anderson, Christine, Richard, Pascale, Guicheney, Pascale, Ferreiro, Ana, Flanigan, Kevin, Howard, Michael
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2009
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2909032/
https://ncbi.nlm.nih.gov/pubmed/19067361
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.20879
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