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Monogenic mouse models of autism spectrum disorders: Common mechanisms and missing links.
scientific article published on 27 December 2015
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Europe PubMed Central
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4803542
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26733386%20AND%20SRC:MED&resulttype=core&format=json
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4 March 2020
title
Monogenic mouse models of autism spectrum disorders: Common mechanisms and missing links
(English)
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Europe PubMed Central
PMC publication ID
4803542
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26733386%20AND%20SRC:MED&resulttype=core&format=json
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4 March 2020
main subject
autism spectrum disorder
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autism
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author
Samuel W Hulbert
series ordinal
1
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Europe PubMed Central
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4803542
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26733386%20AND%20SRC:MED&resulttype=core&format=json
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4 March 2020
author name string
Y-H Jiang
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2
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Europe PubMed Central
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4803542
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26733386%20AND%20SRC:MED&resulttype=core&format=json
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4 March 2020
language of work or name
English
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publication date
28 December 2015
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Europe PubMed Central
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4803542
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4 March 2020
published in
Neuroscience
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Europe PubMed Central
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4803542
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26733386%20AND%20SRC:MED&resulttype=core&format=json
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4 March 2020
volume
321
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Europe PubMed Central
PMC publication ID
4803542
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4 March 2020
page(s)
3-23
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Europe PubMed Central
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4803542
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26733386%20AND%20SRC:MED&resulttype=core&format=json
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4 March 2020
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Genetic architecture in autism spectrum disorder
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30 September 2017
The short-time structural plasticity of dendritic spines is altered in a model of Rett syndrome
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Rare deletions at the neurexin 3 locus in autism spectrum disorder
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PubMed Central
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30 September 2017
Mutations causing syndromic autism define an axis of synaptic pathophysiology
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PubMed Central
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30 September 2017
Bidirectional regulation of dendritic voltage-gated potassium channels by the fragile X mental retardation protein
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Increased gene dosage of Ube3a results in autism traits and decreased glutamate synaptic transmission in mice.
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Brain connectivity and high functioning autism: a promising path of research that needs refined models, methodological convergence, and stronger behavioral links
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Autism-linked neuroligin-3 R451C mutation differentially alters hippocampal and cortical synaptic function
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Communication impairments in mice lacking Shank1: reduced levels of ultrasonic vocalizations and scent marking behavior
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia
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PubMed Central
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30 September 2017
Shank3 mutant mice display autistic-like behaviours and striatal dysfunction
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Pten knockdown in vivo increases excitatory drive onto dentate granule cells
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Concerted action of zinc and ProSAP/Shank in synaptogenesis and synapse maturation
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Brain growth across the life span in autism: Age-specific changes in anatomical pathology
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PubMed Central
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30 September 2017
Sociability and motor functions in Shank1 mutant mice
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Dendritic spine instability and insensitivity to modulation by sensory experience in a mouse model of fragile X syndrome
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PubMed Central
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30 September 2017
Fragile X and autism: Intertwined at the molecular level leading to targeted treatments
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Ubiquitination in postsynaptic function and plasticity
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Behavioural phenotyping assays for mouse models of autism
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Delayed stabilization of dendritic spines in fragile X mice
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Social influence and the autism epidemic
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Regulation of the polycomb protein Ring1B by self-ubiquitination or by E6-AP may have implications to the pathogenesis of Angelman syndrome
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Genomic imprinting of experience-dependent cortical plasticity by the ubiquitin ligase gene Ube3a
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc.
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Input-specific synaptic plasticity in the amygdala is regulated by neuroligin-1 via postsynaptic NMDA receptors
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
The nature of brain dysfunction in autism: functional brain imaging studies
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PubMed Central
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30 September 2017
Neuroligin-1 deletion results in impaired spatial memory and increased repetitive behavior
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Dysregulation of mTOR signaling in fragile X syndrome
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
mTOR signaling: at the crossroads of plasticity, memory and disease
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Mouse neurexin-1alpha deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Diagnostic change and the increased prevalence of autism
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Ube3a is required for experience-dependent maturation of the neocortex.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Increased anxiety-like behavior in mice lacking the inhibitory synapse cell adhesion molecule neuroligin 2
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
MeCP2, a key contributor to neurological disease, activates and represses transcription
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Smaller dendritic spines, weaker synaptic transmission, but enhanced spatial learning in mice lacking Shank1.
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Correction of fragile X syndrome in mice.
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PubMed Central
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30 September 2017
Phosphatase and tensin homolog, deleted on chromosome 10 deficiency in brain causes defects in synaptic structure, transmission and plasticity, and myelination abnormalities
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Brain-derived neurotrophic factor expression and respiratory function improve after ampakine treatment in a mouse model of Rett syndrome.
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Mecp2 deficiency leads to delayed maturation and altered gene expression in hippocampal neurons
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Reversal of neurological defects in a mouse model of Rett syndrome
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Autism spectrum disorders: developmental disconnection syndromes
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
High frequency of neurexin 1beta signal peptide structural variants in patients with autism
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Neuroligins determine synapse maturation and function
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
E6AP mediates regulated proteasomal degradation of the nuclear receptor coactivator amplified in breast cancer 1 in immortalized cells.
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Pten regulates neuronal arborization and social interaction in mice
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2.
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Postnatal loss of methyl-CpG binding protein 2 in the forebrain is sufficient to mediate behavioral aspects of Rett syndrome in mice
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Reduced cortical activity due to a shift in the balance between excitation and inhibition in a mouse model of Rett syndrome
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Hippocampal synaptic plasticity is impaired in the Mecp2-null mouse model of Rett syndrome
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in Fragile X syndrome
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
A mouse model of tuberous sclerosis 1 showing background specific early post-natal mortality and metastatic renal cell carcinoma
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Control of excitatory and inhibitory synapse formation by neuroligins
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Neurexins induce differentiation of GABA and glutamate postsynaptic specializations via neuroligins
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Autism and abnormal development of brain connectivity.
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30 September 2017
The complexity of PDZ domain-mediated interactions at glutamatergic synapses: a case study on neuroligin
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PubMed Central
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30 September 2017
The mGluR theory of fragile X mental retardation
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Cortical activation and synchronization during sentence comprehension in high-functioning autism: evidence of underconnectivity
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PubMed Central
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30 September 2017
Adult outcome for children with autism
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PubMed Central
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30 September 2017
PTEN: one gene, many syndromes
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Tuberous sclerosis complex gene products, Tuberin and Hamartin, control mTOR signaling by acting as a GTPase-activating protein complex toward Rheb
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Alpha-neurexins couple Ca2+ channels to synaptic vesicle exocytosis
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 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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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Akt regulates growth by directly phosphorylating Tsc2
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Mammalian cell size is controlled by mTOR and its downstream targets S6K1 and 4EBP1/eIF4E
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Structure and evolution of neurexin genes: insight into the mechanism of alternative splicing
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Altered synaptic plasticity in a mouse model of fragile X mental retardation
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PubMed Central
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30 September 2017
A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
A rapamycin-sensitive signaling pathway contributes to long-term synaptic plasticity in the hippocampus
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
A germ-line Tsc1 mutation causes tumor development and embryonic lethality that are similar, but not identical to, those caused by Tsc2 mutation in mice
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Autism spectrum disorders
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Neuroligin expressed in nonneuronal cells triggers presynaptic development in contacting axons
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
The Shank family of scaffold proteins
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Tsc2(+/-) mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Identification of HHR23A as a substrate for E6-associated protein-mediated ubiquitination.
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Renal carcinogenesis, hepatic hemangiomatosis, and embryonic lethality caused by a germ-line Tsc2 mutation in mice
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Pten is essential for embryonic development and tumour suppression
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
The tumor suppressor, PTEN/MMAC1, dephosphorylates the lipid second messenger, phosphatidylinositol 3,4,5-trisphosphate
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Autism or atypical autism in maternally but not paternally derived proximal 15q duplication
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PubMed Central
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30 September 2017
MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
UBE3A/E6-AP mutations cause Angelman syndrome
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Structures, alternative splicing, and neurexin binding of multiple neuroligins
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53.
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Identification and characterization of the tuberous sclerosis gene on chromosome 16
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
The validity of animal models of depression
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PubMed Central
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30 September 2017
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Neuroligin-1 regulates excitatory synaptic transmission, LTP and EPSP-spike coupling in the dentate gyrus in vivo
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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30 September 2017
Developmental regulation of GABAergic signalling in the hippocampus of neuroligin 3 R451C knock-in mice: an animal model of Autism
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PubMed Central
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30 September 2017
Autism-like Deficits in Shank3-Deficient Mice Are Rescued by Targeting Actin Regulators
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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28 June 2018
Reduced inhibitory gate in the barrel cortex of Neuroligin3R451C knock-in mice, an animal model of autism spectrum disorders
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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28 June 2018
Region-specific impairments in striatal synaptic transmission and impaired instrumental learning in a mouse model of Angelman syndrome
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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28 June 2018
Chronic pharmacological mGlu5 inhibition corrects fragile X in adult mice
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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28 June 2018
Phosphatase and tensin homologue (PTEN) regulates synaptic plasticity independently of its effect on neuronal morphology and migration
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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28 June 2018
Loss of Tsc1 in vivo impairs hippocampal mGluR-LTD and increases excitatory synaptic function
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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28 June 2018
Adult neural function requires MeCP2.
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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28 June 2018
Exogenous brain-derived neurotrophic factor rescues synaptic dysfunction in Mecp2-null mice
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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28 June 2018
Fragile X mental retardation protein regulates the levels of scaffold proteins and glutamate receptors in postsynaptic densities
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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28 June 2018
Microcephaly and macrocephaly in autism
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28 June 2018
Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons
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PubMed Central
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28 June 2018
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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28 June 2018
Long-term potentiation in the hippocampus of fragile X knockout mice
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PubMed Central
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28 June 2018
Absence of expression of the FMR-1 gene in fragile X syndrome
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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28 June 2018
Enhanced synapse remodelling as a common phenotype in mouse models of autism.
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5 September 2018
Neurexin dysfunction in adult neurons results in autistic-like behavior in mice
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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5 September 2018
Juvenile manifestation of ultrasound communication deficits in the neuroligin-4 null mutant mouse model of autism
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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5 September 2018
Repetitive behaviors in the Shank1 knockout mouse model for autism spectrum disorder: developmental aspects and effects of social context.
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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5 September 2018
Changes in mGlu5 receptor-dependent synaptic plasticity and coupling to homer proteins in the hippocampus of Ube3A hemizygous mice modeling angelman syndrome
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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5 September 2018
Analysis of FMR1 deletion in a subpopulation of post-mitotic neurons in mouse cortex and hippocampus.
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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5 September 2018
Local functional overconnectivity in posterior brain regions is associated with symptom severity in autism spectrum disorders
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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5 September 2018
Rare variants analysis of neurexin-1β in autism reveals a novel start codon mutation affecting protein levels at synapses
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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5 September 2018
The Autism ProSAP1/Shank2 mouse model displays quantitative and structural abnormalities in ultrasonic vocalisations
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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5 September 2018
The Angelman syndrome protein Ube3a is required for polarized dendrite morphogenesis in pyramidal neurons.
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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5 September 2018
Development of an autism severity score for mice using Nlgn4 null mutants as a construct-valid model of heritable monogenic autism
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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5 September 2018
Loss of Tsc2 in Purkinje cells is associated with autistic-like behavior in a mouse model of tuberous sclerosis complex.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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5 September 2018
Early environmental enrichment moderates the behavioral and synaptic phenotype of MeCP2 null mice
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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5 September 2018
Altered neuroligin expression is involved in social deficits in a mouse model of the fragile X syndrome
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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5 September 2018
The ubiquitin ligase E6-AP promotes degradation of alpha-synuclein.
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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5 September 2018
E6AP promotes the degradation of the PML tumor suppressor.
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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5 September 2018
Widespread changes in dendritic and axonal morphology in Mecp2-mutant mouse models of Rett syndrome: evidence for disruption of neuronal networks
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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5 September 2018
Neuroligin-3-deficient mice: model of a monogenic heritable form of autism with an olfactory deficit.
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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5 September 2018
Synaptic ionotropic glutamate receptors and plasticity are developmentally altered in the CA1 field of Fmr1 knockout mice
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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5 September 2018
The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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5 September 2018
Brain-derived neurotrophic factor rescues synaptic plasticity in a mouse model of fragile X syndrome
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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5 September 2018
The PTEN phosphatase is essential for long-term depression of hippocampal synapses
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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5 September 2018
The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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5 September 2018
The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo
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PubMed Central
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5 September 2018
Delayed maturation of neuronal architecture and synaptogenesis in cerebral cortex of Mecp2-deficient mice
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
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5 September 2018
Shank expression is sufficient to induce functional dendritic spine synapses in aspiny neurons.
1 reference
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PubMed Central
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5 September 2018
Autism in Angelman syndrome: implications for autism research.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
retrieved
5 September 2018
Evidence of brain overgrowth in the first year of life in autism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
retrieved
5 September 2018
Derangements of hippocampal calcium/calmodulin-dependent protein kinase II in a mouse model for Angelman mental retardation syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
retrieved
5 September 2018
Neurobehavioral and electroencephalographic abnormalities in Ube3a maternal-deficient mice
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
retrieved
5 September 2018
Reduced cortical synaptic plasticity and GluR1 expression associated with fragile X mental retardation protein deficiency.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
retrieved
5 September 2018
Fragile X mouse: strain effects of knockout phenotype and evidence suggesting deficient amygdala function.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
retrieved
5 September 2018
Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
retrieved
5 September 2018
The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
retrieved
5 September 2018
Cartography of neurexins: more than 1000 isoforms generated by alternative splicing and expressed in distinct subsets of neurons.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803542
retrieved
5 September 2018
High cancer susceptibility and embryonic lethality associated with mutation of the PTEN tumor suppressor gene in mice
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/26733386
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Fmr1 knockout mice: a model to study fragile X mental retardation. The Dutch-Belgian Fragile X Consortium
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/26733386
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Autism and tuberous sclerosis
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/26733386
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1016/J.NEUROSCIENCE.2015.12.040
1 reference
stated in
Europe PubMed Central
PMC publication ID
4803542
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26733386%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 March 2020
PMC publication ID
4803542
1 reference
stated in
Europe PubMed Central
PMC publication ID
4803542
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26733386%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 March 2020
PubMed publication ID
26733386
1 reference
stated in
Europe PubMed Central
PMC publication ID
4803542
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26733386%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 March 2020
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