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

Novel Drosophila model of myotonic dystrophy type 1: phenotypic characterization and genome-wide view of altered gene expression.

Human molecular genetics - 15 Jul 2013

Picchio Lucie, Plantie Emilie, Renaud Yoan, Poovthumkadavil Preethi, Jagla Krzysztof

Abstract excerpt

Myotonic dystrophy type 1 (DM1) is a multisystemic RNA-dominant disorder characterized by myotonia and muscle degeneration. In DM1 patients, the mutant DMPK transcripts containing expanded CUG repeats form nuclear foci and sequester the Muscleblind-like 1 splicing factor, resulting in mis-splicing of its targets. However, several pathological defects observed in DM1 and their link with disease progression remain...

Read the complete abstract on PubMed

Topics

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

Share to Cell Nucleus
Share to Drosophila melanogaster

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Drosophila Proteins

Share to Gene Expression

Share to Muscles

Share to Myotonic Dystrophy

Share to Nuclear Proteins

Share to Trinucleotide Repeat Expansion

Source

Identifiers

PMID: 23525904
DOI: 10.1093/hmg/ddt127

Genes

DMPK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel Drosophila model of myotonic dystrophy type 1: phenotypic characterization and genome-wide view of altered gene expression.PMID 23525904Read ↗

Deregulations of miR-1 and its target Multiplexin promote dilated cardiomyopathy associated with myotonic dystrophy type 1Semantic proximity Read ↗

Transcriptional changes and developmental abnormalities in a zebrafish model of myotonic dystrophy type 1.Semantic proximity Read ↗

Expanded CCUG repeat RNA expression in Drosophila heart and muscle trigger Myotonic Dystrophy type 1-like phenotypes and activate autophagocytosis genesSemantic proximity Read ↗

Derepressing muscleblind expression by miRNA sponges ameliorates myotonic dystrophy-like phenotypes in Drosophila.Semantic proximity Read ↗

Deregulations of miR‐1 and its target Multiplexin promote dilated cardiomyopathy associated with myotonic dystrophy type 1Semantic proximity Read ↗

Zebrafish deficient for Muscleblind-like 2 exhibit features of myotonic dystrophy.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 ↗

A Potent Inhibitor of Protein Sequestration by Expanded Triplet (CUG) Repeats that Shows Phenotypic Improvements in a <i>Drosophila</i> Model of Myotonic DystrophySemantic proximity Read ↗

Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts.Semantic proximity Read ↗

Drosophila Muscleblind Is Involved in troponin T Alternative Splicing and ApoptosisSemantic proximity Read ↗

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

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

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