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Title: NONO mutations cause syndromic intellectual disability and inhibitory synaptic defects      
dateReleased:
09-02-2015
description:
Identifying causes of sporadic intellectual disability remains a considerable medical challenge. Here, we demonstrate that null mutations in the NONO gene, a member of the Drosophila Behavior Human Splicing (DBHS) protein family, are a novel cause of X-linked syndromic intellectual disability. Comparing humans to Nono-deficient mice revealed related behavioral and craniofacial anomalies, as well as global transcriptional dysregulation. Nono-deficient mice also showed deregulation of a large number of synaptic transcripts, causing a disorganization of inhibitory synapses, with impaired postsynaptic scaffolding of gephyrin. Alteration of gephyrin clustering could be rescued by over-expression of Gabra2 in NONO-compromised neurons. These findings link NONO to intellectual disability and first highlight the key role of DBHS proteins in functional organization of GABAergic synapses.
privacy:
not applicable
aggregation:
instance of dataset
ID:
E-MTAB-2894
refinement:
raw
dateSubmitted:
09-02-2014
keywords:
functional genomics
dateModified:
09-05-2014
availability:
available
types:
gene expression
name:
Homo sapiens
name:
case control design
ID:
A-GEOD-15207
name:
GeneChip® PrimeView™ Human Gene Expression Array
accessURL: https://www.ebi.ac.uk/arrayexpress/files/E-MTAB-2894/E-MTAB-2894.raw.1.zip
storedIn:
ArrayExpress
qualifier:
gzip compressed
format:
TXT
accessType:
download
authentication:
none
authorization:
none
accessURL: https://www.ebi.ac.uk/arrayexpress/files/E-MTAB-2894/E-MTAB-2894.processed.1.zip
storedIn:
ArrayExpress
qualifier:
gzip compressed
format:
TXT
accessType:
download
authentication:
none
authorization:
none
abbreviation:
EBI
homePage: http://www.ebi.ac.uk/
ID:
SCR:004727
name:
European Bioinformatics Institute
homePage: https://www.ebi.ac.uk/arrayexpress/
ID:
SCR:002964
name:
ArrayExpress

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