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- W4386325811 abstract "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 cytoplasmic aggregation of Tar DNA-RNA binding protein 43 (TDP-43). TDP-43 pathology is characteristic of the majority of ALS cases, irrespective of disease causation, and is present in ~50% of FTD cases. Defects in nucleocytoplasmic transport involving the nuclear pore complex, the Ran-GTPase cycle, and nuclear transport factors have been linked with the mislocalization of TDP-43. Here, we will explore and discuss the implications of these system abnormalities of nucleocytoplasmic transport in C9orf72-ALS/FTD, as well as in other forms of familial and sporadic ALS." @default.
- W4386325811 created "2023-09-01" @default.
- W4386325811 creator A5006202510 @default.
- W4386325811 creator A5058720562 @default.
- W4386325811 date "2023-08-31" @default.
- W4386325811 modified "2023-09-27" @default.
- W4386325811 title "Unraveling the impact of disrupted nucleocytoplasmic transport systems in C9orf72-associated ALS" @default.
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