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Cellular and synaptic network defects in autism
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PubMed
title
Cellular and synaptic network defects in autism
(English)
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PubMed
main subject
autism
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author name string
João Peça
series ordinal
1
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Crossref
Guoping Feng
series ordinal
2
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stated in
Crossref
language of work or name
English
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stated in
PubMed
publication date
October 2012
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stated in
PubMed
published in
Current Opinion in Neurobiology
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PubMed
volume
22
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PubMed
issue
5
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PubMed
page(s)
866-72
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PubMed
cites work
The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)
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FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism
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Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3
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Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication
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Functional impact of global rare copy number variation in autism spectrum disorders
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Advances in autism
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PubMed Central
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Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
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3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome
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Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms
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PubMed Central
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21 March 2017
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
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PubMed Central
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Altered synaptic plasticity in a mouse model of fragile X mental retardation
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PubMed Central
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UBE3A/E6-AP mutations cause Angelman syndrome
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PubMed Central
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TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling
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The Shank family of scaffold proteins
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PubMed Central
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Coupling of mGluR/Homer and PSD-95 complexes by the Shank family of postsynaptic density proteins
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PubMed Central
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An architectural framework that may lie at the core of the postsynaptic density
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PubMed Central
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Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification
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21 March 2017
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
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Fragile X mental retardation protein: nucleocytoplasmic shuttling and association with somatodendritic ribosomes
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21 March 2017
Identification and characterization of the tuberous sclerosis gene on chromosome 16
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21 March 2017
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
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Smaller dendritic spines, weaker synaptic transmission, but enhanced spatial learning in mice lacking Shank1.
1 reference
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Association of mouse Dlg4 (PSD-95) gene deletion and human DLG4 gene variation with phenotypes relevant to autism spectrum disorders and Williams' syndrome
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Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2
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7 April 2017
Regulation of dendritic spine morphology and synaptic function by Shank and Homer
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28 September 2017
Increased gene dosage of Ube3a results in autism traits and decreased glutamate synaptic transmission in mice.
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28 September 2017
Protein interactome reveals converging molecular pathways among autism disorders
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28 September 2017
Toward Fulfilling the Promise of Molecular Medicine in Fragile X Syndrome
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28 September 2017
Fragile X mental retardation protein replacement restores hippocampal synaptic function in a mouse model of fragile X syndrome
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28 September 2017
Ube3a is required for experience-dependent maturation of the neocortex.
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28 September 2017
Multiple rare SAPAP3 missense variants in trichotillomania and OCD.
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28 September 2017
Neurexin 1alpha structural variants associated with autism
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28 September 2017
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28 September 2017
A rapamycin-sensitive signaling pathway contributes to long-term synaptic plasticity in the hippocampus
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28 September 2017
Fragile X mental retardation protein regulates the levels of scaffold proteins and glutamate receptors in postsynaptic densities
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31 May 2018
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
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31 May 2018
A point mutation in the FMR-1 gene associated with fragile X mental retardation
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31 May 2018
The role of the postsynaptic density in the pathology of the fragile X syndrome
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28 November 2018
Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay
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28 November 2018
The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology
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28 November 2018
Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP.
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28 November 2018
Shank expression is sufficient to induce functional dendritic spine synapses in aspiny neurons.
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Differential expression and dendritic transcript localization of Shank family members: identification of a dendritic targeting element in the 3' untranslated region of Shank1 mRNA.
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Autism and tuberous sclerosis
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based on heuristic
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Role for Rapid Dendritic Protein Synthesis in Hippocampal mGluR-Dependent Long-Term Depression
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12 December 2020
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A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism
1 reference
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based on heuristic
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Identifiers
DOI
10.1016/J.CONB.2012.02.015
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PMC publication ID
3407823
1 reference
stated in
PubMed
PubMed publication ID
22440525
1 reference
stated in
PubMed
ResearchGate publication ID
221969361
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