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...

Descripción completa

Detalles Bibliográficos
Autores principales: Bai, Yunhong, Wu, Xingyao, Brennan, Kathryn M., Wang, David S., D'Antonio, Maurizio, Moran, John, Svaren, John, Shy, Michael E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5899917/
https://www.ncbi.nlm.nih.gov/pubmed/29687021
http://dx.doi.org/10.1002/acn3.543

Ejemplares similares

Ejemplares similares