A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function

Protein zero (P0) is the major structural protein in peripheral myelin, and mutations in the Myelin Protein Zero (Mpz) gene produce wide-ranging hereditary neuropathy phenotypes. To gain insight in the mechanisms underlying a particularly severe form, congenital hypomyelination (CH), we targeted mou...

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Publicado en:Hum Mol Genet
Autores principales: Fratta, Pietro, Ornaghi, Francesca, Dati, Gabriele, Zambroni, Desirée, Saveri, Paola, Belin, Sophie, D’Adamo, Patrizia, Shy, Michael, Quattrini, Angelo, Laura Feltri, M, Wrabetz, Lawrence
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2019
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6298235/
https://ncbi.nlm.nih.gov/pubmed/30239779
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy336
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