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CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca(2+) entry-stimulated respiration

GDAP1 is an outer mitochondrial membrane protein involved in Charcot-Marie-Tooth (CMT) disease. Lack of GDAP1 gives rise to altered mitochondrial networks and endoplasmic reticulum (ER)-mitochondrial interactions resulting in a decreased ER-Ca(2+) levels along with a defect on store-operated calcium...

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Detalles Bibliográficos
Autores principales: González-Sánchez, Paloma, Pla-Martín, David, Martínez-Valero, Paula, Rueda, Carlos B., Calpena, Eduardo, del Arco, Araceli, Palau, Francesc, Satrústegui, Jorgina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5318958/
https://www.ncbi.nlm.nih.gov/pubmed/28220846
http://dx.doi.org/10.1038/srep42993