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Loss of function MPZ mutation causes milder CMT1B neuropathy

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 little known of the consequences of MPZ haploinsufficiency in humans. We iden...

Peripheral Nerve Development and the Pathogenesis of Peripheral Neuropathy: the Sorting Point

Nerve development requires a coordinated sequence of events and steps to be accomplished for the generation of functional peripheral nerves to convey sensory and motor signals. Any abnormality during development may result in pathological structure and function of the nerve, which evolves in peripheral neuropathy. In this review, we will briefly describe different steps of nerve development while we will mostly focus on the molecular mechanisms involved in radial sorting of axons, one of thes...

Merosin deficient congenital muscular dystrophy type 1A: An international workshop on the road to therapy 15-17 November 2019, Maastricht, the Netherlands

Editorial: Current Insights Into LAMA2 Disease.

ASO Visual Abstract: Long-Term Survivors After Upfront Resection for Pancreatic Ductal Adenocarcinoma: An Actual 5-Year Analysis of Disease-Specific and Post-Recurrence Survival

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Prodotti recenti

Loss of function MPZ mutation causes milder CMT1B neuropathy

Peripheral Nerve Development and the Pathogenesis of Peripheral Neuropathy: the Sorting Point

Merosin deficient congenital muscular dystrophy type 1A: An international workshop on the road to therapy 15-17 November 2019, Maastricht, the Netherlands

Editorial: Current Insights Into LAMA2 Disease.

ASO Visual Abstract: Long-Term Survivors After Upfront Resection for Pancreatic Ductal Adenocarcinoma: An Actual 5-Year Analysis of Disease-Specific and Post-Recurrence Survival

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