P0S63del impedes the arrival of wild-type P0 glycoprotein to myelin in CMT1B mice

More than 120 mutations in the Myelin Protein Zero gene (MPZ, P0) cause various forms of hereditary neuropathy. Two human mutations encoding either P0S63C or P0S63del have been shown to cause demyelination in mice through different gain of function pathomechanisms. P0S63del, for example, is retained...

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Main Authors: Fratta, Pietro, Saveri, Paola, Zambroni, Desiree, Ferri, Cinzia, Tinelli, Elisa, Messing, Albee, D'Antonio, Maurizio, Feltri, Maria Laura, Wrabetz, Lawrence
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2011
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3090187/
https://ncbi.nlm.nih.gov/pubmed/21363884
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr081
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