BiophysicsbioRxivPreprint
Pathogenic Mutations in the C2A Domain of Dysferlin form Amyloid that Activates the Inflammasome.
Isaac L. Scott, Matthew J. Dominguez, Adam Snow…·Roger Bryan Sutton
This study shows that C2A domain mutations in dysferlin cause amyloid formation, which activates the NLRP3 inflammasome and leads to inflammation and muscle dysfunction in Limb-Girdle Muscular Dystrophy Type-2B/2R.
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