Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects (Q30845425)

18 October 2017

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects (English)

1 reference

syndromic intellectual disability

18 October 2017

0 references

intellectual disability

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

disability affecting intellectual abilities

1 reference

7

1 reference

18 October 2017

Christine Bôle-Feysot

6

Christine Bole-Feysot

0 references

Patrick Nitschké

8

Patrick Nitschke

0 references

Olivier Alibeu

Olivier Alibeu

11

0 references

Sébastien Moutton

Sébastien Moutton

4

0 references

Karine Siquier-pernet

Karine Siquier-Pernet

5

0 references

Rochelle Hines

Rochelle Hines

23

0 references

Shiva K Tyagarajan

Shiva K Tyagarajan

29

0 references

Laurence Colleaux

Laurence Colleaux

30

0 references

Jean-Marc Fritschy

Jean-Marc Fritschy

25

0 references

Jeanne Amiel

Jeanne Amiel

27

0 references

Maéva Langouët

2

Maéva Langouët

1 reference

18 October 2017

1

Dennis Mircsof

1 reference

18 October 2017

Marlène Rio

3

1 reference

18 October 2017

Patrick Nitschke

8

1 reference

18 October 2017

Ludmila Gaspar

9

1 reference

18 October 2017

Matej Žnidarič

10

1 reference

18 October 2017

Ann-Kristina Fritz

12

1 reference

18 October 2017

David P Wolfer

13

1 reference

18 October 2017

Aileen Schröter

14

1 reference

18 October 2017

Giovanna Bosshard

15

1 reference

18 October 2017

Markus Rudin

16

1 reference

18 October 2017

Christina Koester

17

1 reference

18 October 2017

Florence Crestani

18

1 reference

18 October 2017

Petra Seebeck

19

1 reference

18 October 2017

Katrina Prescott

21

1 reference

18 October 2017

DDD Study

22

1 reference

18 October 2017

Steven J Moss

24

1 reference

18 October 2017

Steven A Brown

28

1 reference

18 October 2017

language of work or name

English

0 references

publication date

16 November 2015

1 reference

18 October 2017

1 reference

18 October 2017

18

1 reference

18 October 2017

1731-1736

1 reference

18 October 2017

12

1 reference

describes a project that uses

18 October 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5392243/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

Gephyrin: a master regulator of neuronal function?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

p54nrb/NonO and PSF promote U snRNA nuclear export by accelerating its export complex assembly

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

Disrupting the clustering of GABAA receptor α2 subunits in the frontal cortex leads to reduced γ-power and cognitive deficits

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

NONO couples the circadian clock to the cell cycle

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

Distinct roles of DBHS family members in the circadian transcriptional feedback loop

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

Paraspeckle nuclear bodies--useful uselessness?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

RNA binding proteins accumulate at the postsynaptic density with synaptic activity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

Sh3pxd2b mice are a model for craniofacial dysmorphology and otitis media

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

RSEM: accurate transcript quantification from RNA-Seq data with or without a reference genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

A molecular mechanism for circadian clock negative feedback

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

Fox-3 and PSF interact to activate neural cell-specific alternative splicing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

Regulation of GABAergic synapse formation and plasticity by GSK3beta-dependent phosphorylation of gephyrin.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

Differences in the density of GABA-A receptor alpha-2 subunits and gephyrin in brain structures of rats selected for low and high anxiety in basal and fear-stimulated conditions, in a model of contextual fear conditioning

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

Human CD14dim monocytes patrol and sense nucleic acids and viruses via TLR7 and TLR8 receptors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

Paraspeckles: nuclear bodies built on long noncoding RNA

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

Hippocampal-dependent learning requires a functional circadian system

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

Analyzing real-time PCR data by the comparative C(T) method

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

Alu element-mediated gene silencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

A coactivator trap identifies NONO (p54nrb) as a component of the cAMP-signaling pathway

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

The multifunctional protein p54nrb/PSF recruits the exonuclease XRN2 to facilitate pre-mRNA 3' processing and transcription termination

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

Transcriptional activity of androgen receptor is modulated by two RNA splicing factors, PSF and p54nrb.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

Vertebrate-specific sequences in the gephyrin E-domain regulate cytosolic aggregation and postsynaptic clustering

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

PSPC1, NONO, and SFPQ are expressed in mouse Sertoli cells and may function as coregulators of androgen receptor-mediated transcription

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

Regulating gene expression through RNA nuclear retention

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

P54nrb forms a heterodimer with PSP1 that localizes to paraspeckles in an RNA-dependent manner

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

PERIOD1-associated proteins modulate the negative limb of the mammalian circadian oscillator

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

Kinesin transports RNA: isolation and characterization of an RNA-transporting granule

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

Expression and functional significance of mouse paraspeckle protein 1 on spermatogenesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

PSF and p54(nrb)/NonO--multi-functional nuclear proteins

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

The fate of dsRNA in the nucleus: a p54(nrb)-containing complex mediates the nuclear retention of promiscuously A-to-I edited RNAs

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

GABAA-receptor heterogeneity in the adult rat brain: differential regional and cellular distribution of seven major subunits

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

Cloning and characterization of PSF, a novel pre-mRNA splicing factor

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

Severity of spatial learning impairment in aging: development of a learning index for performance in the Morris water maze.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

Cholinergic receptor blockade in the rat impairs locale but not taxon strategies for place navigation in a swimming pool

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

NonO binds to the CpG island of oct4 promoter and functions as a transcriptional activator of oct4 gene expression

21 June 2018

1 reference

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

Distinct mechanisms regulate GABAA receptor and gephyrin clustering at perisomatic and axo-axonic synapses on CA1 pyramidal cells.

21 January 2018

1 reference

Gephyrin regulates the cell surface dynamics of synaptic GABAA receptors.

21 January 2018

1 reference

Reversal of ketamine-induced working memory impairments by the GABAAalpha2/3 agonist TPA023.

21 January 2018

1 reference

Assessment of the effects of NS11394 and L-838417, α2/3 subunit-selective GABA(A) [corrected] receptor-positive allosteric modulators, in tests for pain, anxiety, memory and motor function.

21 January 2018

1 reference

Micro MRI of the mouse brain using a novel 400 MHz cryogenic quadrature RF probe

21 January 2018

1 reference

Intact spatial memory in mice with seizure-induced partial lossof hippocampal pyramidal neurons

21 January 2018

1 reference

Neonatal frontal lesions in hamsters impair species-typical behaviors and reduce brain weight and neocortical thickness.

21 January 2018

1 reference

Efficient transfection of DNA or shRNA vectors into neurons using magnetofection

21 January 2018

1 reference

A protocol for concurrent high-quality immunohistochemical and biochemical analyses in adult mouse central nervous system

21 January 2018

1 reference

A rapid Percoll gradient procedure for preparation of synaptosomes.

21 January 2018

1 reference

Large-scale discovery of novel genetic causes of developmental disorders.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

GABAergic terminals are required for postsynaptic clustering of dystrophin but not of GABA(A) receptors and gephyrin.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392243

25 November 2018

Identifiers

DOI

10.1038/NN.4169

1 reference

18 October 2017

1 reference

18 October 2017

1 reference