Article
P0S63del impedes the arrival of wild-type P0 glycoprotein to myelin in CMT1B mice.
Human molecular genetics - 1 Jun 2011
Fratta Pietro, Saveri Paola, Zambroni Desiree, Ferri Cinzia, Tinelli Elisa, Messing Albee, D'Antonio Maurizio, Feltri Maria Laura, Wrabetz Lawrence
Abstract excerpt
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 retai...
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