期刊
BRAIN RESEARCH
卷 1462, 期 -, 页码 3-15出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.brainres.2012.02.059
关键词
Amyotrophic lateral sclerosis; Frontotemporal dementia; TDP-43; FUS/TLS; C9orf72; RNA processing
资金
- international Human Frontier Science Program Organization
- Milton-Safenowitz post-doctoral fellowship from the Amyotrophic Lateral Sclerosis Association
- Muscular Dystrophy Association
- National Institute of Neurological Disorders and Stroke [K99NS075216, R37NS27036]
- National Institutes of Health [HG004659, GM084317]
- California Institute for Regenerative Medicine [RB1-01413]
- Stem Cell Program at the University of California, San Diego
Amyotrophic lateral sclerosis (ALS) research is undergoing an era of unprecedented discoveries with the identification of new genes as major genetic causes of this disease. These discoveries reinforce the genetic, clinical and pathological overlap between ALS and frontotemporal lobar degeneration (FTLD). Common causes of these diseases include mutations in the RNA/DNA-binding proteins, TDP-43 and FUS/TLS and most recently, hexanucleotide expansions in the C9orf72 gene, discoveries that highlight the overlapping pathogenic mechanisms that trigger ALS and FTLD. TDP-43 and FUS/TLS, both of which participate in several steps of RNA processing, are abnormally aggregated and mislocalized in ALS and FTLD, while the expansion in the C9orf72 pre-mRNA strongly suggests sequestration of one or more RNA binding proteins in pathologic RNA foci. Hence, ALS and FTLD converge in pathogenic pathways disrupting the regulation of RNA processing. This article is part of a Special Issue entitled RNA-Binding Proteins. (c) 2012 Elsevier B.V. All rights reserved.
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