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Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy
Mutations of FIG4 are responsible for Yunis-Varón syndrome, familial epilepsy with polymicrogyria, and Charcot-Marie-Tooth type 4J neuropathy (CMT4J). Although loss of the FIG4 phospholipid phosphatase consistently causes decreased PtdIns(3,5)P(2) levels, cell-specific sensitivity to partial loss of...
Autores principales: | , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4275070/ https://www.ncbi.nlm.nih.gov/pubmed/25187576 http://dx.doi.org/10.1093/hmg/ddu451 |