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Article

Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome.

Journal of medical genetics - 1 Jan 2012

Lopez-Atalaya J P, Gervasini C, Mottadelli F, Spena S, Piccione M, Scarano G, Selicorni A, Barco A, Larizza L

Abstract excerpt

BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is a congenital neurodevelopmental disorder defined by postnatal growth deficiency, characteristic skeletal abnormalities and mental retardation and caused by mutations in the genes encoding for the transcriptional co-activators with intrinsic lysine acetyltransferase (KAT) activity CBP and p300. Previous studies have shown that neuronal histone acetylation is reduced...

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Share to Acetylation
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to E1A-Associated p300 Protein

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Source

Identifiers

PMID: 21984751
DOI: 10.1136/jmedgenet-2011-100354

Genes

CREBBP

Provenance

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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