Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors

Ullrich congenital muscular dystrophy and Bethlem myopathy are caused by mutations in collagen VI (ColVI) genes, which encode an extracellular matrix protein; yet, mitochondria play a major role in disease pathogenesis through a short circuit caused by inappropriate opening of the permeability trans...

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Detalles Bibliográficos
Autores principales: Zulian, Alessandra, Tagliavini, Francesca, Rizzo, Erika, Pellegrini, Camilla, Sardone, Francesca, Zini, Nicoletta, Maraldi, Nadir Mario, Santi, Spartaco, Faldini, Cesare, Merlini, Luciano, Petronilli, Valeria, Bernardi, Paolo, Sabatelli, Patrizia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2014
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4238408/
https://www.ncbi.nlm.nih.gov/pubmed/25477819
http://dx.doi.org/10.3389/fnagi.2014.00324

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4238408/
https://www.ncbi.nlm.nih.gov/pubmed/25477819
http://dx.doi.org/10.3389/fnagi.2014.00324

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