Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

HNRNPA1-induced spliceopathy in a transgenic mouse model of myotonic dystrophy

21 Feb 2020

Abstract excerpt

Significance Myotonic dystrophy type 1 (DM1) is a model for RNA-mediated disease in microsatellite expansion disorders. DM1 is caused by CTG expansions (CTG exp ) and expression of CUG exp RNAs that sequester muscleblind-like (MBNL) proteins, while also triggering hyperphosphorylation of CUGBP1/ETR3-like factor 1 (CELF1). These proteins regulate developmental transitions in RNA processing, so DM1 is characterized...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cardiomyopathy and Myosin Studies
Share to Genetic Neurodegenerative Diseases
Share to RNA Research and Splicing

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 32086392
DOI: 10.1073/pnas.1907297117

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 20 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

HNRNPA1-induced spliceopathy in a transgenic mouse model of myotonic dystrophyPMID 32086392Read ↗

An Overview of Alternative Splicing Defects Implicated in Myotonic Dystrophy Type ISemantic proximity Read ↗

Myotonic Dystrophy and Developmental Regulation of RNA Processing.Semantic proximity Read ↗

(CTG)n repeat-mediated dysregulation of MBNL1 and MBNL2 expression during myogenesis in DM1 occurs already at the myoblast stageSemantic proximity Read ↗

Alternative splicing dysregulation across tissue and therapeutic approaches in a mouse model of myotonic dystrophy type 1Semantic proximity Read ↗

Myotonic dystrophy 1 in the nervous system: From the clinic to molecular mechanismsSemantic proximity Read ↗

Integrative proteogenomics for differential expression and splicing variation in a DM1 mouse modelSemantic proximity Read ↗

MBNL overexpression rescues cardiac phenotypes in a myotonic dystrophy type 1 heart mouse model.Semantic proximity Read ↗

Expanded CUG Repeats Dysregulate RNA Splicing by Altering the Stoichiometry of the Muscleblind 1 ComplexSemantic proximity Read ↗

Regulation of Toxic RNA Foci and Mutant <i>DMPK</i> Transcripts: Role of MBNL Proteins and RNA Decay PathwaysSemantic proximity Read ↗

MBNL Sequestration by Toxic RNAs and RNA Misprocessing in the Myotonic Dystrophy BrainSemantic proximity Read ↗

Myogenic defects in myotonic dystrophy.Semantic proximity Read ↗

Increased nuclear but not cytoplasmic activities of CELF1 protein leads to muscle wastingSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.