Article
Capn3b-deficient zebrafish model reveals a key role of autoimmune response in LGMDR1.
Journal of genetics and genomics = Yi chuan xue bao - 1 Dec 2024
Chen Yayue, Huang Delai, Xie Aixuan, Shan Ying, Zhao Shuyi, Gao Ce, Chen Jun, Shi Hui, Fang Weihuan, Peng Jinrong
Abstract excerpt
Mutations in calcium-dependent papain-like protease CALPAIN3 (CAPN3) cause Limb-Girdle Muscular Dystrophy Recessive Type 1 (LGMDR1), the most common limb-girdle muscular dystrophy in humans. In addition to progressive muscle weakness, persistent inflammatory infiltration is also a feature of LGMDR1. Despite the underlying mechanism remaining poorly understood, we consider that it may relate to the newly defined...
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