Abstract:
:Recently, missense mutations in the gene TARDBP encoding TDP-43 have been linked to familial ALS. The discovery of genes encoding these RNA binding proteins, such as TDP-43 and FUS/TLS, raised the notion that altered RNA metabolism is a major factor underlying the pathogenesis of ALS. To begin to unravel how mutations in TDP-43 cause dysfunction and death of motor neurons, investigators have employed both gain- and loss-of-function studies in rodent model systems. Here, we will summarize major findings from the initial sets of TDP-43 transgenic and knockout rodent models, identify their limitations, and point to future directions toward clarification of disease mechanism(s) and testing of therapeutic strategies that ultimately may lead to novel therapy for this devastating disease. This article is part of a Special Issue entitled RNA-Binding Proteins.
journal_name
Brain Resjournal_title
Brain researchauthors
Tsao W,Jeong YH,Lin S,Ling J,Price DL,Chiang PM,Wong PCdoi
10.1016/j.brainres.2012.04.031subject
Has Abstractpub_date
2012-06-26 00:00:00pages
26-39eissn
0006-8993issn
1872-6240pii
S0006-8993(12)00725-1journal_volume
1462pub_type
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