Proteasome inhibitors reduce thrombospondin-1 release in human dysferlin-deficient myotubes.

ABSTRACT:

Background

Dysferlinopathies are a group of muscle disorders causing muscle weakness and absence or low levels of dysferlin, a type-II transmembrane protein and the causative gene of these dystrophies. Dysferlin is implicated in vesicle fusion, trafficking, and membrane repair. Muscle biopsy of patients with dysferlinopathy is characterized by the presence of inflammatory infiltrates. Studies in the muscle of both human and mouse models of dysferlinopathy suggest dysferlin deficient muscle plays a role in this inflammation by releasing thrombospondin-1. It has also been reported that vitamin D3 treatment enhances dysferlin expression. The ubiquitin-proteasome system recognizes and removes proteins that fail to fold or assemble properly and previous studies suggest that its inhibiti

SUBMITTER: Fernandez-Simon E 

PROVIDER: S-EPMC7697384 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature