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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Vydáno v:Hum Mol Genet
Hlavní autoři: Fratta, Pietro, Ornaghi, Francesca, Dati, Gabriele, Zambroni, Desirée, Saveri, Paola, Belin, Sophie, D’Adamo, Patrizia, Shy, Michael, Quattrini, Angelo, Laura Feltri, M, Wrabetz, Lawrence
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2019
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General Article
On-line přístup: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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