(Q37949205)

25 August 2017

title

Emerging major synaptic signaling pathways involved in intellectual disability (English)

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25 August 2017

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A Pavlowsky

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25 August 2017

P Billuart

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J Chelly

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25 August 2017

language of work or name

English

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publication date

25 October 2011

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25 August 2017

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25 August 2017

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25 August 2017

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25 August 2017

page(s)

682-693

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Genetics and pathophysiology of mental retardation

25 August 2017

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Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia

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Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia

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Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families

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The role of the Rho GTPases in neuronal development

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Regulation of dendritic spine motility and stability by Rac1 and Rho kinase: evidence for two forms of spine motility

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Loss of X-linked mental retardation gene oligophrenin1 in mice impairs spatial memory and leads to ventricular enlargement and dendritic spine immaturity

21 January 2018

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The X-linked mental retardation protein oligophrenin-1 is required for dendritic spine morphogenesis

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The Rho-linked mental retardation protein oligophrenin-1 controls synapse maturation and plasticity by stabilizing AMPA receptors

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Inhibition of RhoA pathway rescues the endocytosis defects in Oligophrenin1 mouse model of mental retardation

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The Rho-linked mental retardation protein OPHN1 controls synaptic vesicle endocytosis via endophilin A1

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Accessory factors in clathrin-dependent synaptic vesicle endocytosis

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The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation

21 January 2018

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No association between SRGAP3/MEGAP haploinsufficiency and mental retardation.

21 January 2018

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WRP/srGAP3Facilitates the Initiation of Spine Development by an Inverse F-BAR Domain, and Its Loss Impairs Long-Term Memory

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A WAVE-1 and WRP signaling complex regulates spine density, synaptic plasticity, and memory

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Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene

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Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor

21 January 2018

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Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene

21 January 2018

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Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2011.139

The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2011.139

Impaired GABAergic transmission and altered hippocampal synaptic plasticity in collybistin-deficient mice

21 January 2018

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Increased network excitability and impaired induction of long-term potentiation in the dentate gyrus of collybistin-deficient mice in vivo.

21 January 2018

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PH-domain-driven targeting of collybistin but not Cdc42 activation is required for synaptic gephyrin clustering.

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2011.139

Neuroligin 2 drives postsynaptic assembly at perisomatic inhibitory synapses through gephyrin and collybistin

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2011.139

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2011.139

AlphaPIX Rho GTPase guanine nucleotide exchange factor regulates lymphocyte functions and antigen receptor signaling

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2011.139

PAK3 mutation in nonsyndromic X-linked mental retardation

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2011.139

Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2011.139

X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3.

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2011.139

LIM kinases: function, regulation and association with human disease

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2011.139

Regulation of actin dynamics through phosphorylation of cofilin by LIM-kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

Altered cortical synaptic morphology and impaired memory consolidation in forebrain- specific dominant-negative PAK transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

The mental retardation protein PAK3 contributes to synapse formation and plasticity in hippocampus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

The p21-activated kinase 3 implicated in mental retardation regulates spine morphogenesis through a Cdc42-dependent pathway

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2011.139

Abnormal spine morphology and enhanced LTP in LIMK-1 knockout mice

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2011.139

Abnormal long-lasting synaptic plasticity and cognition in mice lacking the mental retardation gene Pak3.

21 January 2018

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Sequential implication of the mental retardation proteins ARHGEF6 and PAK3 in spine morphogenesis

21 January 2018

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Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2011.139

SynGAP: a synaptic RasGAP that associates with the PSD-95/SAP90 protein family

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

PDZ domains and the organization of supramolecular complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

Synapse-associated protein 102/dlgh3 couples the NMDA receptor to specific plasticity pathways and learning strategies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

SynGAP regulates spine formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

State-dependent Ras signaling and AMPA receptor trafficking

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

SynGAP regulates steady-state and activity-dependent phosphorylation of cofilin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

Differential roles of NR2A- and NR2B-containing NMDA receptors in Ras-ERK signaling and AMPA receptor trafficking

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

Requirement of Rsk-2 for epidermal growth factor-activated phosphorylation of histone H3

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

Coupling of the RAS-MAPK pathway to gene activation by RSK2, a growth factor-regulated CREB kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

21 January 2018

Coffin-Lowry syndrome

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

Deletion of the Coffin-Lowry syndrome gene Rsk2 in mice is associated with impaired spatial learning and reduced control of exploratory behavior

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

Transcriptome profile reveals AMPA receptor dysfunction in the hippocampus of the Rsk2-knockout mice, an animal model of Coffin-Lowry syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

The Coffin-Lowry syndrome-associated protein RSK2 is implicated in calcium-regulated exocytosis through the regulation of PLD1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

Mutations in GDI1 are responsible for X-linked non-specific mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

Cognitive impairment in Gdi1-deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning training.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

Multiple roles for Arf6: sorting, structuring, and signaling at the plasma membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

ARF proteins: roles in membrane traffic and beyond

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

Regulation of PIP5K activity by Arf6 and its physiological significance

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

ARF6 in the nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

AMPA receptor signaling through BRAG2 and Arf6 critical for long-term synaptic depression

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

The postsynaptic density protein, IQ-ArfGEF/BRAG1, can interact with IRSp53 through its proline-rich sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

IQ-ArfGEF/BRAG1 is a guanine nucleotide exchange factor for Arf6 that interacts with PSD-95 at postsynaptic density of excitatory synapses

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

A postsynaptic signaling pathway that may account for the cognitive defect due to IL1RAPL1 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

Mutations in the calcium-related gene IL1RAPL1 are associated with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

IL1-receptor accessory protein-like 1 (IL1RAPL1), a protein involved in cognitive functions, regulates N-type Ca2+-channel and neurite elongation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

Structural and functional deficits in a neuronal calcium sensor-1 mutant identified in a case of autistic spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

Synaptic accumulation of PSD-95 and synaptic function regulated by phosphorylation of serine-295 of PSD-95.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

Crystal structure of the Toll/interleukin-1 receptor domain of human IL-1RAPL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

Rapid and bi-directional regulation of AMPA receptor phosphorylation and trafficking by JNK

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

Neuronal JNK pathway activation by IL-1 is mediated through IL1RAPL1, a protein required for development of cognitive functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

Interleukin 1 in the brain: biology, pathology and therapeutic target

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

A dual role for interleukin-1 in LTP in mouse hippocampal slices

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

Impaired interleukin-1 signaling is associated with deficits in hippocampal memory processes and neural plasticity.

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2011.139

A dual role for interleukin-1 in hippocampal-dependent memory processes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

Neuroligins and neurexins link synaptic function to cognitive disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

Activity-dependent validation of excitatory versus inhibitory synapses by neuroligin-1 versus neuroligin-2

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

Autism-linked neuroligin-3 R451C mutation differentially alters hippocampal and cortical synaptic function

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2011.139

Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2011.139

The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2011.139

Molecular and cellular mechanisms of learning disabilities: a focus on NF1.

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2011.139

Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model.

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2011.139

RhoA/Rho-kinase signaling: a therapeutic target in pulmonary hypertension

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2011.139

RhoA/Rho-kinase pathway: much more than just a modulation of vascular tone. Evidence from studies in humans

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2011.139

Rho-kinase inhibition: a novel therapeutic target for the treatment of cardiovascular diseases.

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2011.139

Characterization of a novel mitogen-activated protein kinase kinase 1/2 inhibitor with a unique mechanism of action for cancer therapy

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2011.139

Enhancement of learning and memory after activation of cerebral Rho GTPases

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2011.139

Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2011.139

Dendritic Spine Pathology: Cause or Consequence of Neurological Disorders?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

The Coffin-Lowry Syndrome-associated Protein RSK2 Controls Neuroendocrine Secretion through the Regulation of Phospholipase D1 at the Exocytotic Sites

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2011.139

21 January 2018

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https://api.crossref.org/works/10.1038%2FMP.2011.139

7 January 2021

The role of synaptic GTPase-activating protein in neuronal development and synaptic plasticity

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https://api.crossref.org/works/10.1038%2FMP.2011.139

7 January 2021

SynGAP regulates ERK/MAPK signaling, synaptic plasticity, and learning in the complex with postsynaptic density 95 and NMDA receptor

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https://api.crossref.org/works/10.1038%2FMP.2011.139

7 January 2021

A developmental change in NMDA receptor-associated proteins at hippocampal synapses

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https://api.crossref.org/works/10.1038%2FMP.2011.139

7 January 2021

A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

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https://api.crossref.org/works/10.1038%2FMP.2011.139

7 January 2021

Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family

1 reference

https://api.crossref.org/works/10.1038%2FMP.2011.139

7 January 2021

Identification and characterization of two members of a novel class of the interleukin-1 receptor (IL-1R) family. Delineation of a new class of IL-1R-related proteins based on signaling

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https://api.crossref.org/works/10.1038%2FMP.2011.139

7 January 2021

Identifiers

DOI

10.1038/MP.2011.139

1 reference

25 August 2017

1 reference