Ontology highlight
ABSTRACT:
SUBMITTER: Allamand V
PROVIDER: S-EPMC1456920 | biostudies-literature | 2006 Apr
REPOSITORIES: biostudies-literature
Allamand Valérie V Richard Pascale P Lescure Alain A Ledeuil Céline C Desjardin Delphine D Petit Nathalie N Gartioux Corine C Ferreiro Ana A Krol Alain A Pellegrini Nadine N Urtizberea J Andoni JA Guicheney Pascale P
EMBO reports 20060224 4
Mutations in the SEPN1 gene encoding the selenoprotein N (SelN) have been described in different congenital myopathies. Here, we report the first mutation in the selenocysteine insertion sequence (SECIS) of SelN messenger RNA, a hairpin structure located in the 3' untranslated region, in a patient presenting a classical although mild form of rigid spine muscular dystrophy. We detected a significant reduction in both mRNA and protein levels in the patient's skin fibroblasts. The SECIS element is ...[more]