Article

Novel truncating Desmin mutation Arg150Stop disrupts structural integrity and cellular homeostasis by formation of persistent aggregate-like structure

2025-10-15

Abstract excerpt

Desminopathies are a heterogeneous group of myofibrillar myopathies defined by the presence of desmin-positive aggregates that compromise cytoskeletal integrity in skeletal and cardiac muscle. Although desmin knockout models and several truncating mutations typically result in a functional null phenotype without inclusion body formation, the molecular consequences of specific stop-gain variants remain poorly under...

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Literature Corpus work: 6c5d6c5e-3765-5177-a6e3-3224b6a74c1b
DOI: 10.1101/2025.10.14.682287

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