Article

Aberrant neuronal differentiation and splicing defects in Congenital Myotonic Dystrophy (DM1) iPSC models

2026-06-30

Abstract excerpt

Myotonic Dystrophy type 1 (DM1) is an autosomal multisystem disorder manifested due to unstable CTG nucleotide repeat expansion within the 3′-untranslated region of the dystrophia myotonica protein kinase ( DMPK ) gene. Although progress towards understanding of molecular pathogenesis in muscle and heart has been made, the pathways that affect the brain in DM1 is fundamentally unknown. In addition, the congenital...

Topics

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

Identifiers and source

Literature Corpus work: ff62b584-b8b8-5233-8bc9-d3cae9a28a83
DOI: 10.64898/2026.06.25.734569

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Aberrant neuronal differentiation and splicing defects in Congenital Myotonic Dystrophy (DM1) iPSC modelsDOI 10.64898/2026.06.25.734569Read

Commitment to Myogenic Differentiation Significantly Aggravates the RNA Phenotype in Myotonic Dystrophy Type 1.Semantic proximity Read

Distinct pathological signatures in human cellular models of myotonic dystrophy subtypes.Semantic proximity Read

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

Recapitulating muscle disease phenotypes with myotonic dystrophy 1 induced pluripotent stem cells: a tool for disease modeling and drug discovery.Semantic proximity Read

Mutant human embryonic stem cells reveal neurite and synapse formation defects in type 1 myotonic dystrophy.Semantic proximity Read

MBNL‐dependent impaired development within the neuromuscular system in myotonic dystrophy type 1Semantic proximity Read

Myotonic dystrophy type 1 patient-derived iPSCs for the investigation of CTG repeat instabilitySemantic proximity Read

Human iPSC-derived muscle cells as a new model for investigation of EDMD1 pathogenesisSemantic proximity Read

Cortical organoids from congenital DM1 PSCs reveal MBNL-dependent corticogenesis defects and enable preclinical testing of therapeutic compoundsSemantic proximity Read

Pluripotent Stem Cells in Disease Modeling and Drug Discovery for Myotonic Dystrophy Type 1Semantic proximity Read

Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies.Semantic proximity Read

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