Pathogenic Mutations in the C2A Domain of Dysferlin form Amyloid that Activates the Inflammasome
肌营养不良蛋白C2A结构域的致病性突变形成淀粉样蛋白,进而激活炎症小体。
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doi:10.1101/2023.04.24.538129
Scott, Isaac L; Dominguez, Matthew J; Snow, Adam; Harsini, Faraz M; Williams, Justin; Fuson, Kerry L; Thapa, Roshan; Bhattacharjee, Pushpak; Cornwall, Gail A; Keyel, Peter A; Sutton, R Bryan