A novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism

Mutations in the Myelin Protein Zero gene (MPZ), encoding P0, the major structural glycoprotein of peripheral nerve myelin, are the cause of Charcot–Marie-Tooth (CMT) type 1B neuropathy, and most P0 mutations appear to act through gain-of-function mechanisms. Here, we investigated how misglycosylati...

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Detalles Bibliográficos
Autores principales: Veneri, Francesca A, Prada, Valeria, Mastrangelo, Rosa, Ferri, Cinzia, Nobbio, Lucilla, Passalacqua, Mario, Milanesi, Maria, Bianchi, Francesca, Del Carro, Ubaldo, Vallat, Jean-Michel, Duong, Phu, Svaren, John, Schenone, Angelo, Grandis, Marina, D’Antonio, Maurizio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9759335/
https://www.ncbi.nlm.nih.gov/pubmed/35908287
http://dx.doi.org/10.1093/hmg/ddac170

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