Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing.

doi:10.1074/jbc.M109.084525

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Article

Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing.

The Journal of biological chemistry - 18 Jun 2010

Tapia Victor E, Nicolaescu Emilia, McDonald Caleb B, Musi Valeria, Oka Tsutomu, Inayoshi Yujin, Satteson Adam C, Mazack Virginia, Humbert Jasper, Gaffney Christian J, Beullens Monique, Schwartz Charles E, Landgraf Christiane, Volkmer Rudolf, Pastore Annalisa, Farooq Amjad, Bollen Mathieu, Sudol Marius

Abstract excerpt

The PQBP1 (polyglutamine tract-binding protein 1) gene encodes a nuclear protein that regulates pre-mRNA splicing and transcription. Mutations in the PQBP1 gene were reported in several X chromosome-linked mental retardation disorders including Golabi-Ito-Hall syndrome. The missense mutation that causes this syndrome is unique among other PQBP1 mutations reported to date because it maps within a functional domain...

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Identifiers

PMID: 20410308
DOI: 10.1074/jbc.M109.084525
PMCID: PMC2885219

Genes

PQBP1
WBP11

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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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