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Metabolic dysregulation contributes to the development of dysferlinopathy

Dysferlin deficiency causes metabolic dysregulation, characterized by mitochondrial abnormalities, death signaling, and elevated glucose uptake and excessive glycogen accumulation in muscle. Dysferlin is a transmembrane protein that plays a prominent role in membrane repair of damaged muscle fibers....

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Bibliographic Details
Main Authors: Regula Furrer, Sedat Dilbaz, Stefan A Steurer, Gesa Santos, Bettina Karrer-Cardel, Danilo Ritz, Michael Sinnreich, Christoph Handschin
Format: Artigo
Language:Inglês
Published: Life Science Alliance LLC 2025-05-01
Series:Life Science Alliance
Online Access:https://www.life-science-alliance.org/lookup/doi/10.26508/lsa.202402991
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