Article
ANXA11 mutations in ALS cause dysregulation of calcium homeostasis and stress granule dynamics.
Science translational medicine - 21 Oct 2020
Nahm Minyeop, Lim Su Min, Kim Young-Eun, Park Jinseok, Noh Min-Young, Lee Sanggon, Roh Ju Eun, Hwang Sung-Min, Park Chul-Kyu, Kim Yong Ho, Lim GyuTae, Lee Jinhyuk, Oh Ki-Wook, Ki Chang-Seok, Kim Seung Hyun
Abstract excerpt
Dysregulation of calcium ion homeostasis and abnormal protein aggregation have been proposed as major pathogenic hallmarks underpinning selective degeneration of motor neurons in amyotrophic lateral sclerosis (ALS). Recently, mutations in annexin A11 (ANXA11), a gene encoding a Ca2+-dependent phospholipid-binding protein, have been identified in familial and sporadic ALS. However, the physiological and...
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