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Article

Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.

Human molecular genetics - 15 May 2015

Brookes Emily, Laurent Benoit, Õunap Katrin, Carroll Renee, Moeschler John B, Field Michael, Schwartz Charles E, Gecz Jozef, Shi Yang

Abstract excerpt

Mutations in KDM5C are an important cause of X-linked intellectual disability in males. KDM5C encodes a histone demethylase, suggesting that alterations in chromatin landscape may contribute to disease. We used primary patient cells and biochemical approaches to investigate the effects of patient mutations on KDM5C expression, stability and catalytic activity. We report and characterize a novel nonsense mutation,...

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Identifiers

PMID: 25666439
DOI: 10.1093/hmg/ddv046
PMCID: PMC4406297

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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