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Article

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

Human molecular genetics - 1 Oct 2001

Fan X, Dion P, Laganiere J, Brais B, Rouleau G A

Abstract excerpt

Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disorder characterized by progressive eyelid drooping, swallowing difficulties and proximal limb weakness. The autosomal dominant form of this disease is caused by short expansions of a (GCG)(6) repeat to (GCG)(8-13) in the PABPN1 gene,...

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Source

Identifiers

PMID: 11689481
DOI: 10.1093/hmg/10.21.2341

Genes

PABPN1
GCG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11689481-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death.PMID 11689481Read ↗

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

hnRNP A1 and A/B Interaction with PABPN1 in Oculopharyngeal Muscular DystrophySemantic proximity Read ↗

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

Oculopharyngeal muscular dystrophy: a late-onset polyalanine disease.Semantic proximity Read ↗

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

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

Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNASemantic proximity Read ↗

Hsp70 Chaperones and Type I PRMTs Are Sequestered at Intranuclear Inclusions Caused by Polyalanine Expansions in PABPN1Semantic proximity Read ↗

Ectopic expression of a polyalanine expansion mutant of poly(A)-binding protein N1 in muscle cells in culture inhibits myogenesis.Semantic proximity Read ↗

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

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

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