C9orf72 deficiency impairs the autophagic response to aggregated TDP-25 and exacerbates TDP-25-mediated neurodegeneration in vivo

C9orf72 deficiency impairs the autophagic response to aggregated TDP-25 and exacerbates TDP-25-mediated neurodegeneration in vivo

Abstract Cytoplasmic aggregates of the predominantly nuclear TAR DNA-binding protein 43 (TDP-43) are a pathological hallmark of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) cases caused by G4C2 hexanucleotide repeat expansions in C9orf72 (C9-ALS/FTD). While these repeat expa...

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Bibliographic Details
Main Authors: Lilian Tsai-Wei Lin, Marc Shenouda, Philip McGoldrick, Agnes Lau, Janice Robertson
Format: Article
Language:English
Published: BMC 2025-06-01
Series:Acta Neuropathologica Communications
Subjects:
Neurodegeneration
Amyotrophic lateral sclerosis
Frontotemporal dementia
TAR DNA-binding protein 43
C9orf72
Protein aggregation
Online Access:https://doi.org/10.1186/s40478-025-02061-5
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https://doi.org/10.1186/s40478-025-02061-5

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