Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Presynaptic dysfunction in CASK-related neurodevelopmental disorders

ABSTRACT: Presynaptic dysfunction in CASK-related neurodevelopmental disorders

PROVIDER: PRJNA590196 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Similar Datasets

Presynaptic dysfunction in CASK-related neurodevelopmental disorders

Project description:CASK-related disorders are a growing group of genetic neurodevelopmental syndromes. There is limited information about the effects of CASK mutations in human neurons. Therefore, we sought to delineate CASK mutation consequences and neuronal level effects using induced pluripotent stem cell-derived neurons from two mutation carriers; one male diagnosed with ASD and a female with MICPCH. We show a reduction of the CASK protein in maturing neurons from the mutation carriers, which leads to significant downregulation of gene sets involved in presynaptic development and CASK protein interactors. Furthermore, CASK-deficient neurons showed decreased inhibitory presynapse size as indicated by VGAT stainings, which may alter E/I balance in developing neural circuitries. Using in vivo magnetic resonance spectroscopy quantification of GABA in the male mutation carrier, we further highlight the possibility to validate in vitro cellular data in brain. Our data shows that future pharmacological and clinical studies on targeting presynapses and E/I imbalance could lead to specific treatments for CASK-related disorders.

2020-07-27 | GSE140572 | GEO

CRISPR activation for SCN2A-related neurodevelopmental disorders

Project description:CRISPR activation for SCN2A-related neurodevelopmental disorders

| PRJNA1292778 | ENA

CRISPR activation for SCN2A-related neurodevelopmental disorders

Project description:CRISPR activation for SCN2A-related neurodevelopmental disorders

| PRJNA796834 | ENA

Presynaptic dysfunction in CASK-related neurodevelopmental disorders.

Project description: Not available

| S-EPMC7490425 | biostudies-literature

Gene dosage imbalance in neurodevelopmental disorders

Project description:Gene dosage imbalance in neurodevelopmental disorders

| PRJNA287736 | ENA

GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders Mice

Project description:Mice experiment for GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders

2024-03-28 | E-MTAB-13475 | biostudies-arrayexpress

GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders Organoid

Project description:Mice experiment for GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders

2024-04-15 | E-MTAB-13477 | biostudies-arrayexpress

GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders Organoid SC

Project description:GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders Organoid SC

2024-06-27 | E-MTAB-13478 | biostudies-arrayexpress

Array-CGH in a boy with an occurrence of neurodevelopmental disorders and epilepsy

Project description:This analysis includes the whole-genome screening of unbalanced chromosomal rearrangements (copy-number variants; CNV) in a boy with neurodevelopmental disorders and epilepsy.

2020-01-31 | E-MTAB-8147 | biostudies-arrayexpress

Dysfunction of a SET3C-like complex underlies a family of related neurological disorders

Project description:TBLR1, a subunit of the NCoR corepressor complex, is mutated in a range of neurodevelopmental disorders that only partially align symptomatically with those caused by mutations in its binding partner, MeCP2. In a search for novel TBLR1-binding partners, we identified ANKRD11 and SETD5 – mutations in which are amongst the most frequent genetic causes of neurodevelopmental disorders. Here we report that TBLR1 provides a molecular bridge between ANKRD11, SETD5 and NCoR in a complex with a strikingly resembles the SET3C complex of yeast. Pathogenic missense mutations in TBLR1, ANKRD11 and SETD5 disrupt this mammalian SET3C-like assembly. Mutations of this kind in Ankrd11 and Setd5 genes cause highly correlated changes in gene expression and severe developmental impairments. We present evidence that this complex restrains the expression of highly transcribed genes. Our results demonstrate that failure of transcriptional regulation by SET3C provides a convergent molecular basis for a family of neurodevelopmental disorders.

2026-05-01 | PXD077916 | Pride

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data