REVIEW ARTICLE

neurogenetics

, Volume 11, Issue 3, pp 275-290

First online:

RNA processing pathways in amyotrophic lateral sclerosis

  • Marka van BlitterswijkAffiliated withDepartment of Neurology, University of Massachusetts Medical SchoolDepartment of Neurology, University Medical Center Utrecht
  • , John E. LandersAffiliated withDepartment of Neurology, University of Massachusetts Medical School Email author 

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Abstract

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.

Keywords

Amyotrophic lateral sclerosis Mutation RNA processing Transcription Splicing