Ex vivo correction of selenoprotein N deficiency in rigid spine muscular dystrophy caused by a mutation in the selenocysteine codon.

Archive ouverte | Rederstorff, M. | CCSD

International audience. Premature termination of translation due to nonsense mutations is a frequent cause of inherited diseases. Therefore, many efforts were invested in the development of strategies or compounds t...

A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy

Archive ouverte | Allamand, V. | CCSD

C.P.2.11 Expression of selenoprotein N in mice during development and in muscle regeneration

Archive ouverte | Castets, P. | CCSD

International audience