A novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism
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DOI: 10.1093/hmg/ddac170
Abstract: Abstract Mutations in the Myelin Protein Zero gene (MPZ), encoding P0, the major structural glycoprotein of peripheral nerve myelin, are the cause of Charcot–Marie-Tooth (CMT) type 1B neuropathy, and most P0 mutations appear to act… read more here.
Keywords: cmt1b; glycosylation; model; novel mouse ... See more keywords