Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy

SEPN1-related myopathy (SEPN1-RM) is a muscle disorder due to mutations of the SEPN1 gene, which is characterized by muscle weakness and fatigue leading to scoliosis and life-threatening respiratory failure. Core lesions, focal areas of mitochondria depletion in skeletal muscle fibers, are the most...

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Bibliografski detalji
Izdano u:Cell Death Differ
Glavni autori: Filipe, Anne, Chernorudskiy, Alexander, Arbogast, Sandrine, Varone, Ersilia, Villar-Quiles, Rocío-Nur, Pozzer, Diego, Moulin, Maryline, Fumagalli, Stefano, Cabet, Eva, Dudhal, Swati, De Simoni, Maria-Grazia, Denis, Raphaël, Vadrot, Nathalie, Dill, Corinne, Giovarelli, Matteo, Szweda, Luke, De Palma, Clara, Pinton, Paolo, Giorgi, Carlotta, Viscomi, Carlo, Clementi, Emilio, Missiroli, Sonia, Boncompagni, Simona, Zito, Ester, Ferreiro, Ana
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group UK 2020
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7853070/
https://ncbi.nlm.nih.gov/pubmed/32661288
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41418-020-0587-z
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