Journal
NUCLEUS
Volume 7, Issue 2, Pages 132-137Publisher
TAYLOR & FRANCIS INC
DOI: 10.1080/19491034.2016.1172152
Keywords
Amyotrophic Lateral Sclerosis (ALS); C9orf72; Frontotemporal Dementia (FTD); hexanucleotide repeat expansion (HRE); Nucleocytoplasmic transport; Nuclear Pore Complex (NPC); Ran GTPase
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Funding
- NIH [R01 NS085207, NS091046, R01 NS082563]
- Brain Science Institute
- Robert Packard Center for ALS Research at Johns Hopkins
- Muscular Dystrophy Association
- Alzheimer Drug Discovery Foundation
- ALS Association
- National Science Foundation
- Thomas Shortman Training Fund Graduate Scholarship
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A GGGGCC hexanucleotide repeat expansion in C9orf72 is the most common genetic cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Recent studies indicate that disruption of nucleocytoplasmic transport pathways play a critical role in the pathogenesis of C9orf72-mediated ALS/FTD (C9-ALS). Here, we discuss mechanisms by which C9orf72 mutations cause nucleocytoplasmic transport deficits and contribute to disease pathogenesis. We review the current literature regarding nucleocytoplasmic transport disruption in C9-ALS, and discuss implications and directions for future research.
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