Article

Pathogenic Mutations in the C2A Domain of Dysferlin form Amyloid that Activates the Inflammasome

2023-04-26

Abstract excerpt

Limb-Girdle Muscular Dystrophy Type-2B/2R is caused by mutations in the dysferlin gene ( DYSF ). This disease has two known pathogenic missense mutations that occur within dysferlin’s C2A domain, namely C2A W52R and C2A V67D . Yet, the etiological rationale to explain the disease linkage for these two mutations is still unclear. In this study, we have presented evidence from biophysical, computational, and imm...

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Literature Corpus work: b45100df-6685-56f4-96c6-424c9050b838
DOI: 10.1101/2023.04.24.538129

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