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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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Bibliografiske detaljer
Udgivet i:Front Aging Neurosci
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2014
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4238408/
https://ncbi.nlm.nih.gov/pubmed/25477819
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fnagi.2014.00324
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