Article

DLG4 Mutations Disrupt Human Cortical Development and Synaptic Programs in Patient- Derived Brain Organoids

2026-08-25

Abstract excerpt

<title>Abstract</title> <p> DLG4-related synaptopathy is a rare neurodevelopmental disorder caused by pathogenic variants in the Discs Large MAGUK Scaffold Protein 4 <italic>(DLG4)</italic> gene, which encodes postsynaptic density protein 95 (PSD-95). Although <italic>DLG4</italic> variants have been associated with a broad spectrum of neurodevelopmental phenotypes, the molecular mechanisms by which distinct...

Topics

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

Identifiers and source

Literature Corpus work: 305b7e70-1028-59ae-8da8-fb49e97b3cb1
DOI: 10.21203/rs.3.rs-10706460/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

DLG4 Mutations Disrupt Human Cortical Development and Synaptic Programs in Patient- Derived Brain OrganoidsDOI 10.21203/rs.3.rs-10706460/v1Read

Modeling and targeting haploinsufficiency in SHINE syndromeSemantic proximity Read

Multi-omics profiling reveals MAGEL2-driven defects in human corticogenesis shared across Prader-Willi and Schaaf-Yang syndromesSemantic proximity Read

DLG4-related synaptopathy: a new rare brain disorder.Semantic proximity Read

GABA/Glutamate neuron differentiation imbalance and increased AKT/mTOR signalling in CNTNAP2 <sup>-/-</sup> cerebral organoidsSemantic proximity Read

Human brain organoids reveal accelerated development of cortical neuron classes as a shared feature of autism risk genesSemantic proximity Read

Molecular and Functional Dysregulations in Novel, Rett Syndrome Patient-Derived Cerebral OrganoidsSemantic proximity Read

Cortical Organoids Model Early Brain Development Disrupted by 16p11.2 Copy Number Variants in AutismSemantic proximity Read

Cerebral Organoids Containing an <i>AUTS2</i> Missense Variant Model MicrocephalySemantic proximity Read

Cerebral Cortical-Like Organoid Model of PPP2R5D Induced Genetic Intellectual Disability Displays Variant-Specific Disease Severity PhenotypeSemantic proximity Read

Association of mouse Dlg4 (PSD-95) gene deletion and human DLG4 gene variation with phenotypes relevant to autism spectrum disorders and Williams' syndrome.Semantic proximity Read

Identifying cell type specific driver genes in autism-associated copy number loci from cerebral organoidsSemantic proximity Read

Patient brain organoids identify a link between the 16p11.2 copy number variant and the <i>RBFOX1</i> geneSemantic proximity Read