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Article

Wild-type PABPN1 is anti-apoptotic and reduces toxicity of the oculopharyngeal muscular dystrophy mutation.

Human molecular genetics - 15 Apr 2008

Davies Janet E, Sarkar Sovan, Rubinsztein David C

Abstract excerpt

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset, progressive disease caused by the abnormal expansion of a polyalanine tract-encoding (GCG)(n) trinucleotide repeat in the poly-(A) binding protein nuclear 1 (PABPN1) gene. OPMD is generally inherited as an autosomal dominant disorder and the polyalanine expansion mutation is thought to confer a toxic gain-of-function on mutant PABPN1 which forms...

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Source

Identifiers

PMID: 18178579
DOI: 10.1093/hmg/ddm382

Genes

PABPN1
XIAP
GCG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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Wild-type PABPN1 is anti-apoptotic and reduces toxicity of the oculopharyngeal muscular dystrophy mutation.PMID 18178579Read ↗

Expression of the polyalanine expansion mutant of nuclear poly(A)-binding protein induces apoptosis via the p53 pathway.Semantic proximity Read ↗

A Drosophila model of oculopharyngeal muscular dystrophy reveals intrinsic toxicity of PABPN1.Semantic proximity Read ↗

Loss of nuclear poly(A)-binding protein 1 causes defects in myogenesis and mRNA biogenesisSemantic proximity Read ↗

Soluble expanded PABPN1 promotes cell death in oculopharyngeal muscular dystrophy.Semantic proximity Read ↗

Novel mouse models of oculopharyngeal muscular dystrophy (OPMD) reveal early onset mitochondrial defects and suggest loss of PABPN1 may contribute to pathology.Semantic proximity Read ↗

Progress on gene therapy, cell therapy, and pharmacological strategies toward the treatment of oculopharyngeal muscular dystrophy.Semantic proximity Read ↗

Doxycycline attenuates and delays toxicity of the oculopharyngeal muscular dystrophy mutation in transgenic mice.Semantic proximity Read ↗

Post-transcriptional regulation of Pabpn1 by the RNA binding protein HuR.Semantic proximity Read ↗

Cytoplasmic targeting of mutant poly(A)-binding protein nuclear 1 suppresses protein aggregation and toxicity in oculopharyngeal muscular dystrophy.Semantic proximity Read ↗

Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death.Semantic proximity Read ↗

Myopathy phenotype in transgenic mice expressing mutated PABPN1 as a model of oculopharyngeal muscular dystrophy.Semantic proximity Read ↗

Oculopharyngeal muscular dystrophy: a polyalanine myopathy.Semantic proximity Read ↗

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