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Article

Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies.

Human genetics - 1 Jun 2024

Di Fede Elisabetta, Lettieri Antonella, Taci Esi, Castiglioni Silvia, Rebellato Stefano, Parodi Chiara, Colombo Elisa Adele, Grazioli Paolo, Natacci Federica, Marchisio Paola, Pezzani Lidia, Fazio Grazia, Milani Donatella, Massa Valentina, Gervasini Cristina

Abstract excerpt

Histone deacetylases (HDACs) are enzymes pivotal for histone modification (i.e. acetylation marks removal), chromatin accessibility and gene expression regulation. Class I HDACs (including HDAC1, 2, 3, 8) are ubiquitously expressed and they often participate in multi-molecular protein complexes. To date, three neurodevelopmental disorders caused by mutations in genes encoding for HDACs (HDAC4, HDAC6 and HDAC8)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38753158
DOI: 10.1007/s00439-024-02675-0
PMCID: PMC11186948

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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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