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Unraveling the impact of disrupted nucleocytoplasmic transport systems in C9orf72-associated ALS

31 Aug 2023

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two adult-onset neurodegenerative diseases that are part of a common disease spectrum due to clinical, genetic, and pathological overlap. A prominent genetic factor contributing to both diseases is a hexanucleotide repeat expansion in a non-coding region of the C9orf72 gene. This mutation in C9orf72 leads to nuclear depletion and...

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PMID: 37720544
DOI: 10.3389/fncel.2023.1247297

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