Article

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

2026-07-27

Abstract excerpt

<h4>ABSTRACT</h4> Myotonic dystrophy type 1 (DM1) is caused by an expansion of a CTG repeat in the 3′ untranslated region of the DMPK gene, leading to accumulation of toxic CUG-repeat RNAs, sequestration of MBNL proteins and widespread splicing dysregulation. Congenital DM1 (CDM), the most severe form of the disease, is associated with profound muscular and neurodevelopmental defects, yet the mechanisms underlyi...

Topics

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

Identifiers and source

Literature Corpus work: 45cb655d-e2b0-53e1-8d23-ae437cc65e97
DOI: 10.64898/2026.07.23.740263

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Cortical organoids from congenital DM1 PSCs reveal MBNL-dependent corticogenesis defects and enable preclinical testing of therapeutic compoundsDOI 10.64898/2026.07.23.740263Read

Hallmark molecular and pathological features of POLG disease are recapitulated in cerebral organoidsSemantic proximity Read

Aberrant neuronal differentiation and splicing defects in Congenital Myotonic Dystrophy (DM1) iPSC modelsSemantic proximity Read

Hallmark Molecular and Pathological Features of POLG Disease are Recapitulated in Cerebral Organoids.Semantic proximity Read

Human cerebral organoids reveal progenitor pathology in EML1-linked cortical malformation.Semantic proximity Read

Patient derived model of <i>UBA5-</i> associated encephalopathy identifies defects in neurodevelopment and highlights potential therapiesSemantic proximity Read

Characterisation of <i>DMPK</i> and MBNL1 expression in cell models of Myotonic Dystrophy: A platform for drug screeningSemantic proximity Read

Multi-omics of C9orf72 spinal cord organoids reveal convergent molecular signatures and targetsSemantic proximity Read

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

Mosaic human cortical organoids model mTOR-related focal cortical dysplasia through DEPDC5 loss-of-functionSemantic proximity Read

Ameliorated cellular hallmarks of myotonic dystrophy in hybrid myotubes from patient and unaffected donor cellsSemantic proximity Read

Cortical organoids reveal human-specific roles of METTL5 in neurodevelopment via regulation of CHCHD2Semantic proximity Read

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