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Article

Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.

Human mutation - 1 Jan 2010

Musante Luciana, Kunde Stella-Amrei, Sulistio Tina O, Fischer Ute, Grimme Astrid, Frints Suzanna G M, Schwartz Charles E, Martínez Francisco, Romano Corrado, Ropers Hans-Hilger, Kalscheuer Vera M

Abstract excerpt

The polyglutamine binding protein 1 (PQBP1) gene plays an important role in X-linked mental retardation (XLMR). Nine of the thirteen PQBP1 mutations known to date affect the AG hexamer in exon 4 and cause frameshifts introducing premature termination codons (PTCs). However, the phenotype in this group of patients is variable. To investigate the pathology of these PQBP1 mutations, we evaluated their consequences...

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Identifiers

PMID: 19847789
DOI: 10.1002/humu.21146

Genes

PQBP1

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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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Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.PMID 19847789Read ↗

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