Impaired Autophagic Flux in Skeletal Muscle of Plectin‐Related Epidermolysis Bullosa Simplex With Muscular Dystrophy

Impaired Autophagic Flux in Skeletal Muscle of Plectin‐Related Epidermolysis Bullosa Simplex With Muscular Dystrophy

ABSTRACT Background Plectin, a multifunctional cytolinker and intermediate filament stabilizing protein, is essential for muscle fibre integrity and function. Mutations in the human plectin gene (PLEC) cause autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBS‐MD). The diso...

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Main Authors: Michaela M. Zrelski, Margret Eckhard, Petra Fichtinger, Sabrina Hösele, Andy Sombke, Leonid Mill, Monika Kustermann, Wolfgang M. Schmidt, Fiona Norwood, Ursula Schlötzer‐Schrehardt, Gerhard Wiche, Rolf Schröder, Lilli Winter
Format: Article
Language:English
Published: Wiley 2025-08-01
Series:Journal of Cachexia, Sarcopenia and Muscle
Subjects:
autophagy
desmin
epidermolysis bullosa simplex with muscular dystrophy
myofibrillar myopathy
plectin
skeletal muscle
Online Access:https://doi.org/10.1002/jcsm.70001
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https://doi.org/10.1002/jcsm.70001

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