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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 25 Jan 2016.

Synaptic Ras GTPase activating protein 1

Syngap, SYNGAP1, p135 SynGAP, KIAA1938, synaptic RasGAP
The protein encoded by this gene is a major component of the postsynaptic density (PSD), a group of proteins found associated with NMDA receptors at synapses. The encoded protein is phosphorylated by calmodulin-dependent protein kinase II and dephosphorylated by NMDA receptor activation. Defects in this gene are a cause of mental retardation autosomal dominant type 5 (MRD5). [provided by RefSeq, Dec 2009] (from NCBI)
Top mentioned proteins: CAN, HAD, CaM, PSD-95, iMpact
Papers on Syngap
Convergence of Hippocampal Pathophysiology in Syngap+/- and Fmr1-/y Mice.
New
Wyllie et al., Edinburgh, United Kingdom. In J Neurosci, 11 Dec 2015
Super-resolution microscopy reveals that Syngap(+/-) and Fmr1(-/y) mice show nanoscale alterations in dendritic spine morphology that predict an increase in biochemical compartmentalization. Finally, increased basal protein synthesis is rescued by negative regulators of the mGlu subtype 5 receptor and the Ras-ERK1/2 pathway, indicating that therapeutic interventions for fragile X syndrome may benefit patients with SYNGAP1 haploinsufficiency.
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.
New
FitzPatrick et al., Charleroi, Belgium. In Am J Med Genet A, Oct 2015
De novo mutations (DNM) in SYNGAP1, encoding Ras/Rap GTPase-activating protein SynGAP, have been reported in individuals with nonsyndromic intellectual disability (ID).
SYNGAP1 Mutation in Focal and Generalized Epilepsy: A Literature Overview and A Case Report with Special Aspects of the EEG.
New
Kluger et al., Germany. In Neuropediatrics, Aug 2015
BACKGROUND: SYNGAP1, which encodes a RAS-GTPase-activating protein, is located on the short arm of chromosome 6.
Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis.
New
Dallman et al., Miami, United States. In Hum Mol Genet, Aug 2015
Here, we present functional data from syngap1 and shank3 zebrafish loss-of-function models of ASD.
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.
New
Care4Rare Canada et al., Ottawa, Canada. In Clin Genet, Jul 2015
In the eight families we identified mutations in genes associated with known neurological and epilepsy disorders: ASAH1, FOLR1, GRIN2A (two families), SCN8A, SYNGAP1 and SYNJ1.
Syngap1 haploinsufficiency damages a postnatal critical period of pyramidal cell structural maturation linked to cortical circuit assembly.
New
Rumbaugh et al., Jupiter, United States. In Biol Psychiatry, Jun 2015
BACKGROUND: Genetic haploinsufficiency of SYNGAP1/Syngap1 commonly occurs in developmental brain disorders, such as intellectual disability, epilepsy, schizophrenia, and autism spectrum disorder.
Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.
New
Das et al., Chicago, United States. In Clin Genet, Mar 2015
Nine of the eleven cases harbored mutations in autosomal genes including AP4B1, STXB1, SYNGAP1, TCF4 and UBE3A.
Copy number variable microRNAs in schizophrenia and their neurodevelopmental gene targets.
New
Bassett et al., Canada. In Biol Psychiatry, Feb 2015
Predicted gene targets driving these results included CAPRIN1, NEDD4, NTRK2, PAK2, RHOA, and SYNGAP1.
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Piton et al., Illkirch-Graffenstaden, France. In J Med Genet, 2014
RESULTS: We identified 26 causative mutations: 16 in X-linked genes (ATRX, CUL4B, DMD, FMR1, HCFC1, IL1RAPL1, IQSEC2, KDM5C, MAOA, MECP2, SLC9A6, SLC16A2, PHF8) and 10 de novo in autosomal-dominant genes (DYRK1A, GRIN1, MED13L, TCF4, RAI1, SHANK3, SLC2A1, SYNGAP1).
Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
Eichler et al., Seattle, United States. In Nat Commun, 2013
These include CHD2 and SYNGAP1, genes previously reported in related disorders, and novel genes TRIP12 and PAX5.
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
Impact
Mefford et al., Seattle, United States. In Nat Genet, 2013
We show that de novo CHD2 and SYNGAP1 mutations are new causes of epileptic encephalopathies, accounting for 1.2% and 1% of cases, respectively.
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Impact
Strom et al., Zürich, Switzerland. In Lancet, 2012
16 patients carried de-novo variants in known intellectual disability genes with three recurrently mutated genes (STXBP1, SYNGAP1, and SCN2A).
Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses.
Impact
Rumbaugh et al., Jupiter, United States. In Cell, 2012
In the SYNGAP1 mouse model of ID/ASD, we found that dendritic spine synapses develop prematurely during the early postnatal period.
SynGAP isoforms exert opposing effects on synaptic strength.
GeneRIF
Kind et al., Edinburgh, United Kingdom. In Nat Commun, 2011
Overexpression of SynGAP alpha1 versus alpha2 C-termini-containing proteins in hippocampal neurons has opposing effects on synaptic strength, decreasing and increasing miniature excitatory synaptic currents amplitude/frequency, respectively.
Molecular and behavioral changes associated with adult hippocampus-specific SynGAP1 knockout.
GeneRIF
Knuesel et al., China. In Learn Mem, 2011
This study demonstrated the functional significance of SynGAP1 signaling in the adult brain by capturing several changes that are dependent on NMDAR and hippocampal integrity.
SynGAP moves out of the core of the postsynaptic density upon depolarization.
GeneRIF
Dosemeci et al., Bethesda, United States. In Neuroscience, 2011
Here, we characterize the distribution of SynGAP at the postsynaptic density under basal and depolarizing conditions in rat hippocampal neuronal cultures.
Reduced expression of SynGAP, a neuronal GTPase-activating protein, enhances capsaicin-induced peripheral sensitization.
GeneRIF
Hingtgen et al., Indianapolis, United States. In J Neurophysiol, 2011
SynGAP is an important regulator of the release of the neuropeptide calcitonin gene-related peptide from primary sensory neurons and can modulate capsaicin-induced hypernociception.
De novo autosomal dominant mutation in SYNGAP1.
GeneRIF
Cook, Chicago, United States. In Autism Res, 2011
SYNGAP1 is a brain-specific protein that interacts with key components of the proteins involved in experience-dependent changes in glutamate synapses involved in learning.
Functional impact of global rare copy number variation in autism spectrum disorders.
Impact
Betancur et al., Toronto, Canada. In Nature, 2010
Among the CNVs there were numerous de novo and inherited events, sometimes in combination in a given family, implicating many novel ASD genes such as SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53-PTCHD1 locus.
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.
Impact
GeneRIF
Synapse to Disease Group et al., Montréal, Canada. In N Engl J Med, 2009
Results indicate that SYNGAP1 disruption is a cause of autosomal dominant nonsyndromic mental retardation.
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