Back to search

Article

Disruption of the transcription factor <i>NEUROD2</i> causes an autism syndrome via cell-autonomous defects in cortical projection neurons

2018-04-12

Abstract excerpt

We identified seven families associating NEUROD2 pathogenic mutations with ASD and intellectual disability. To get insight into the pathophysiological mechanisms, we analyzed cortical development in Neurod2 KO mice. Cortical projection neurons (CPNs) over-migrated during embryogenesis, inducing abnormal thickness and laminar positioning of cortical layers. At juvenile ages, dendritic spine turnover and intrinsic...

Topics

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

Identifiers and source

Literature Corpus work
d8b3179d-e5cf-5e65-aefa-24310ba6b829
DOI
10.1101/296889
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Disruption of the transcription factor <i>NEUROD2</i> causes an autism syndrome via cell-autonomous defects in cortical projection neuronsDOI 10.1101/296889
Terminal neuron localization to the upper cortical plate is controlled by the transcription factor NEUROD2Semantic proximity
DIXDC1 Phosphorylation and Control of Dendritic Morphology Are Impaired by Rare Genetic Variants.Semantic proximity
CTNND2 regulation by the SRGAP2 protein family links human evolution to synaptic neotenySemantic proximity
Human-specific multicopy gene FRMPD2 promotes synapse formation via recruitment of neuroligin 1Semantic proximity
Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesisSemantic proximity
<i>MARK2</i>variants cause autism spectrum disorder<i>via</i>the downregulation of WNT/β-catenin signaling pathwaySemantic proximity
Enriched expression of genes associated with autism spectrum disorders in human inhibitory neuronsSemantic proximity
Selective vulnerability of excitatory cortical neurons to ZMYND11 loss reveals cell-type-specific mechanisms of neurodevelopmental disorder riskSemantic proximity
ASTN2 in ASD and neurodevelopmental disorders.Semantic proximity
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathySemantic proximity
Dopamine D2 receptor regulates cortical synaptic pruning in rodents.Semantic proximity
WDFY3 cell autonomously controls neuronal migrationSemantic proximity
Select a neighboring publication to make it the new centre.