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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Bibliographic Details
Published in:Hum Mol Genet
Main Authors: Fratta, Pietro, Ornaghi, Francesca, Dati, Gabriele, Zambroni, Desirée, Saveri, Paola, Belin, Sophie, D’Adamo, Patrizia, Shy, Michael, Quattrini, Angelo, Laura Feltri, M, Wrabetz, Lawrence
Format: Artigo
Language:Inglês
Published: Oxford University Press 2019
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Online Access: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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