Lack of GDAP1 Induces Neuronal Calcium and Mitochondrial Defects in a Knockout Mouse Model of Charcot-Marie-Tooth Neuropathy

Mutations in GDAP1, which encodes protein located in the mitochondrial outer membrane, cause axonal recessive (AR-CMT2), axonal dominant (CMT2K) and demyelinating recessive (CMT4A) forms of Charcot-Marie-Tooth (CMT) neuropathy. Loss of function recessive mutations in GDAP1 are associated with decrea...

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Detalles Bibliográficos
Autores principales: Barneo-Muñoz, Manuela, Juárez, Paula, Civera-Tregón, Azahara, Yndriago, Laura, Pla-Martin, David, Zenker, Jennifer, Cuevas-Martín, Carmen, Estela, Anna, Sánchez-Aragó, María, Forteza-Vila, Jerónimo, Cuezva, José M., Chrast, Roman, Palau, Francesc
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4393229/
https://www.ncbi.nlm.nih.gov/pubmed/25860513
http://dx.doi.org/10.1371/journal.pgen.1005115

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