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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書目詳細資料
發表在: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
格式: Artigo
語言:Inglês
出版: Frontiers Media S.A. 2014
主題:
Neuroscience
在線閱讀: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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