Article
Loss of function MPZ mutation causes milder CMT1B neuropathy.
Journal of the peripheral nervous system : JPNS - 1 Jun 2021
Howard Paige, Feely Shawna M E, Grider Tiffany, Bacha Alexa, Scarlato Marina, Fazio Raffaella, Quattrini Angelo, Shy Michael E, Previtali Stefano C
Abstract excerpt
Mutations in Myelin Protein Zero (MPZ) cause CMT1B, the second leading cause of CMT1. Many of the >200 mutations cause neuropathy through a toxic gain of function by the mutant protein such as ER retention, activation of the Unfolded Protein Response (UPR) or disruption of myelin compaction. While there is extensive literature on the loss of function consequences of MPZ in heterozygous Mpz +/- null mice, there is...
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