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Article

Transcription-coupled RNA surveillance in human genetic diseases caused by splice site mutations.

Human molecular genetics - 15 May 2015

Vaz-Drago Rita, Pinheiro Marco T, Martins Sandra, Enguita Francisco J, Carmo-Fonseca Maria, Custódio Noélia

Abstract excerpt

Current estimates indicate that approximately one-third of all disease-causing mutations are expected to disrupt splicing. Abnormal splicing often leads to disruption of the reading frame with introduction of a premature termination codon (PTC) that targets the mRNA for degradation in the cytoplasm by nonsense mediated decay (NMD). In addition to NMD there are RNA surveillance mechanisms that act in the nucleus...

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PMID: 25652404
DOI: 10.1093/hmg/ddv039

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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