期刊
NEUROGENETICS
卷 11, 期 3, 页码 275-290出版社
SPRINGER
DOI: 10.1007/s10048-010-0239-4
关键词
Amyotrophic lateral sclerosis; Mutation; RNA processing; Transcription; Splicing
RNA processing is a tightly regulated, highly complex pathway which includes RNA transcription, pre-mRNA splicing, editing, transportation, translation, and degradation of RNA. Over the past few years, several RNA processing genes have been shown to be mutated or genetically associated with amyotrophic lateral sclerosis (ALS), including the RNA-binding proteins TDP-43 and FUS/TLS. These findings suggest that RNA processing may represent a common pathogenic mechanism involved in development of ALS. In this review, we will discuss six ALS-related, RNA processing genes including their discovery, function, and commonalities.
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