期刊
JOURNAL OF NEUROCHEMISTRY
卷 138, 期 -, 页码 134-144出版社
WILEY
DOI: 10.1111/jnc.13642
关键词
ALS; C9orf72; FTD; FUS; nucleocytoplasmic transport; TDP-43
资金
- NINDS NIH HHS [R01 NS073660, R01 NS065317, R01 NS093865] Funding Source: Medline
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are neurodegenerative diseases with overlapping genetic factors and pathology. On the cellular level, a majority of ALS and FTD cases are characterized by nuclear clearance and cytoplasmic aggregation of otherwise nuclear proteins, TAR DNA-binding protein 43 (TDP-43), or fused in sarcoma. Recent studies investigating cellular pathways perturbed by genetic risk factors for ALS/FTD converge on nucleocytoplasmic transport dysfunction as a mechanism leading to disease pathophysiology.
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