Gain-of-function ANXA11 mutation cause late-onset ALS with aberrant protein aggregation, neuroinflammation and autophagy impairment

Gain-of-function ANXA11 mutation cause late-onset ALS with aberrant protein aggregation, neuroinflammation and autophagy impairment

Abstract Mutations in the ANXA11 gene, encoding an RNA-binding protein, have been implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS), but the underlying in vivo mechanisms remain unclear. This study examines the clinical features of ALS patients harboring the ANXA11 hotspot mutati...

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Bibliographic Details
Main Authors: Qing Liu, Ye Sun, Baodong He, Haodong Chen, Lijing Wang, Gaojie Wang, Kang Zhang, Ximeng Zhao, Xinzhe Zhang, Dongchao Shen, Xue Zhang, Liying Cui
Format: Article
Language:English
Published: BMC 2025-01-01
Series:Acta Neuropathologica Communications
Subjects:
ANXA11
Amyotrophic lateral sclerosis
Mouse model
TDP-43 proteinopathy
Neuroinflammation
Autophagy
Online Access:https://doi.org/10.1186/s40478-024-01919-4
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