Melanocytes from patients affected by Ullrich congenital muscular dystrophy and Bethlem myopathy have dysfunctional mitochondria that can be rescued with cyclophilin inhibitors

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 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 transition por...

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Bibliographic Details
Main Authors: Alessandra eZulian, Francesca eTagliavini, Erika eRizzo, Camilla ePellegrini, Francesca eSardone, Nicoletta eZini, Nadir Mario Maraldi, Spartaco eSanti, Cesare eFaldini, Luciano eMerlini, Valeria ePetronilli, Paolo eBernardi, Patrizia eSabatelli
Format: Article
Language:English
Published: Frontiers Media S.A. 2014-11-01
Series:Frontiers in Aging Neuroscience
Subjects:
Melanocytes
Mitochondria
permeability transition
muscular dystrophy
collagen VI
cyclophilin inhibitors
Online Access:http://journal.frontiersin.org/Journal/10.3389/fnagi.2014.00324/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fnagi.2014.00324/full

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