Article

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

2023-08-21

Abstract excerpt

Alternative polyadenylation (APA) at the 3’UTR of transcripts contributes to the cell transcriptome. APA is suppressed by the nuclear RNA binding protein, PABPN1. Aging-associated reduced PABPN1 levels in skeletal muscles lead to muscle wasting. Muscle weakness in oculopharyngeal muscular dystrophy (OPMD) is caused by short alanine expansion in PABPN1 exon1. The expanded PABPN1 forms nuclear aggregates, an OPMD ha...

Topics

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

Identifiers and source

Literature Corpus work: c6c7572c-fb6c-5dff-9663-0eddc1e1dc3d
DOI: 10.1101/2023.08.17.23294024

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

<i>PABPN1</i>loss-of-function in oculopharyngeal muscular dystrophy primarily impacts APA-shift in muscle transcriptsDOI 10.1101/2023.08.17.23294024Read

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 proteomicsSemantic proximity Read

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

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

Molecular and phenotypic characterization of a mouse model of oculopharyngeal muscular dystrophy reveals severe muscular atrophy restricted to fast glycolytic fibres.Semantic proximity Read

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

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

TREND-DB – A Transcriptome-wide Atlas of the Dynamic Landscape of Alternative PolyadenylationSemantic proximity Read

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

PABPC1 Modulates Immunoglobulin pre-mRNA Alternative PolyadenylationSemantic proximity Read

HNRNPA1-induced spliceopathy in a transgenic mouse model of myotonic dystrophySemantic proximity Read