Article

Oculopharyngeal muscular dystrophy (OPMD) associated alanine expansion impairs the function of the nuclear polyadenosine RNA binding protein PABPN1 as revealed by proximity labeling and comparative proteomics

2025-05-23

Abstract excerpt

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset disease caused by modest alanine expansion at the amino terminus of the nuclear polyadenosine RNA binding protein PABPN1. PABPN1 is expressed ubiquitously and is involved in multiple steps in RNA processing including optimal cleavage and polyadenylation, polyadenylation signal selection, and export of polyadenylated RNAs from the nucleus. Expanded PABPN1 fo...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 9aaebc58-8468-504e-9015-6b826d654f81
DOI: 10.1101/2025.05.23.655706

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Oculopharyngeal muscular dystrophy (OPMD) associated alanine expansion impairs the function of the nuclear polyadenosine RNA binding protein PABPN1 as revealed by proximity labeling and comparative proteomicsDOI 10.1101/2025.05.23.655706Read

<i>PABPN1</i>loss-of-function in oculopharyngeal muscular dystrophy primarily impacts APA-shift in muscle transcriptsSemantic proximity Read

Distinct roles of IDR and CCD domains control PABPN1 aggregation and enable therapeutic rescueSemantic proximity Read

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

Correlating Protein Aggregate Structure with Cellular Function in Differentiated Muscle Cells: Discriminating Pathogenic from Non-Pathogenic FormsSemantic proximity Read

Post-transcriptional regulation of Pabpn1 by the RNA binding protein HuR.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

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

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

The poly(A)-binding protein nuclear 1 suppresses alternative cleavage and polyadenylation sites.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

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