Abstract:
:Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are neurodegenerative diseases with clinical and pathological overlap. Landmark discoveries of mutations in the transactive response DNA-binding protein (TDP-43) and fused in sarcoma/translocated in liposarcoma (FUS/TLS) as causative of ALS and FTLD, combined with the abnormal aggregation of these proteins, have initiated a shifting paradigm for the underlying pathogenesis of multiple neurodegenerative diseases. TDP-43 and FUS/TLS are both RNA/DNA-binding proteins with striking structural and functional similarities. Their association with ALS and other neurodegenerative diseases is redirecting research efforts toward understanding the role of RNA processing regulation in neurodegeneration.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Lagier-Tourenne C,Polymenidou M,Cleveland DWdoi
10.1093/hmg/ddq137subject
Has Abstractpub_date
2010-04-15 00:00:00pages
R46-64issue
R1eissn
0964-6906issn
1460-2083pii
ddq137journal_volume
19pub_type
杂志文章,评审abstract::Motivated by the overwhelming success of genome-wide association studies, droves of researchers are working vigorously to exchange and to combine genetic data to expediently discover genetic risk factors for common human traits. The primary tools that fuel these new efforts are imputation, allowing researchers who hav...
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journal_title:Human molecular genetics
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