Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B

OBJECTIVE: To determine the prevalence of MPZ mutations that cause Charcot Marie Tooth neuropathy type 1B (CMT1B) and activate the unfolded protein Response (UPR). BACKGROUND: CMT1B is caused by >200 heterozygous mutations in MPZ, the major protein in peripheral nerve myelin. Mutations Ser63del M...

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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: Bai, Yunhong, Wu, Xingyao, Brennan, Kathryn M., Wang, David S., D'Antonio, Maurizio, Moran, John, Svaren, John, Shy, Michael E.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5899917/
https://ncbi.nlm.nih.gov/pubmed/29687021
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.543
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