Defective control of pre–messenger RNA splicing in human disease

Examples of associations between human disease and defects in pre–messenger RNA splicing/alternative splicing are accumulating. Although many alterations are caused by mutations in splicing signals or regulatory sequence elements, recent studies have noted the disruptive impact of mutated generic spliceosome components and splicing regulatory proteins. This review highlights recent progress in our understanding of how the altered splicing function of RNA-binding proteins contributes to myelodysplastic syndromes, cancer, and neuropathologies.

• Publication year

  2016

• Venue

  Journal of Cell Biology

• Publication date

  2016-01-04

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1083/jcb.201510032PMID 26728853PMCID 4700483
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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