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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Hum Mol Genet
Egile Nagusiak: Fratta, Pietro, Ornaghi, Francesca, Dati, Gabriele, Zambroni, Desirée, Saveri, Paola, Belin, Sophie, D’Adamo, Patrizia, Shy, Michael, Quattrini, Angelo, Laura Feltri, M, Wrabetz, Lawrence
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Oxford University Press 2019
Gaiak:
General Article
Sarrera elektronikoa: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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