Article

Impaired autophagic flux in skeletal muscle of plectin-related epidermolysis bullosa simplex with muscular dystrophy

2025-02-26

Abstract excerpt

<h4>Background</h4> Plectin, a multi-functional cytolinker and intermediate filament (IF) stabilizing protein, is essential for muscle fiber integrity and function. Mutations in the human plectin gene ( PLEC ) cause autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBS-MD). The disorganization and aggregation of desmin IFs in conjunction with degenerative changes of the myofibrillar appa...

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Literature Corpus work: 69bcdebb-ae8f-5fd0-906e-d33a51e3a0e2
DOI: 10.1101/2025.02.26.640276

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