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Resetting translational homeostasis restores myelination in Charcot-Marie-Tooth disease type 1B mice
P0 glycoprotein is an abundant product of terminal differentiation in myelinating Schwann cells. The mutant P0S63del causes Charcot-Marie-Tooth 1B neuropathy in humans, and a very similar demyelinating neuropathy in transgenic mice. P0S63del is retained in the endoplasmic reticulum of Schwann cells,...
Autores principales: | D’Antonio, Maurizio, Musner, Nicolò, Scapin, Cristina, Ungaro, Daniela, Del Carro, Ubaldo, Ron, David, Feltri, M. Laura, Wrabetz, Lawrence |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Rockefeller University Press
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3620355/ https://www.ncbi.nlm.nih.gov/pubmed/23547100 http://dx.doi.org/10.1084/jem.20122005 |
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