Article
A novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism.
Human molecular genetics - 16 Dec 2022
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
Abstract excerpt
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 misglycosylation, a pathomechanism encompassing several genetic disorders, may affect P0 function. Using in vitro assays, we...
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