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Rer1 and calnexin regulate endoplasmic reticulum retention of a peripheral myelin protein 22 mutant that causes type 1A Charcot-Marie-Tooth disease

Peripheral myelin protein 22 (PMP22) resides in the plasma membrane and is required for myelin formation in the peripheral nervous system. Many PMP22 mutants accumulate in excess in the endoplasmic reticulum (ER) and lead to the inherited neuropathies of Charcot-Marie-Tooth (CMT) disease. However, t...

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Detalles Bibliográficos
Autores principales: Hara, Taichi, Hashimoto, Yukiko, Akuzawa, Tomoko, Hirai, Rika, Kobayashi, Hisae, Sato, Ken
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4227013/
https://www.ncbi.nlm.nih.gov/pubmed/25385046
http://dx.doi.org/10.1038/srep06992