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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Veröffentlicht in:Hum Mol Genet
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: Oxford University Press 2019
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General Article
Online Zugang: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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