Reciprocal signaling between translational control pathways and synaptic proteins in autism spectrum disorders (Q38263362)

18 June 2018

review article

1 reference

title

Reciprocal signaling between translational control pathways and synaptic proteins in autism spectrum disorders (English)

1 reference

18 June 2018

main subject

autism spectrum disorder

0 references

autism

0 references

author name string

Emanuela Santini

series ordinal

1

1 reference

18 June 2018

Eric Klann

series ordinal

2

1 reference

18 June 2018

language of work or name

1 reference

28 October 2014

1 reference

18 June 2018

published in

Science Signaling

1 reference

18 June 2018

volume

7

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18 June 2018

issue

349

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18 June 2018

page(s)

re10

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18 June 2018

Autism-associated gene Dlgap2 mutant mice demonstrate exacerbated aggressive behaviors and orbitofrontal cortex deficits

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Activity-dependent neuronal signalling and autism spectrum disorder

23 June 2018

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Exaggerated translation causes synaptic and behavioural aberrations associated with autism

23 June 2018

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23 June 2018

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Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses

23 June 2018

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Common genetic variants, acting additively, are a major source of risk for autism

23 June 2018

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Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

23 June 2018

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Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice

23 June 2018

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PTEN signaling in autism spectrum disorders

23 June 2018

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Functional consequences of mutations in postsynaptic scaffolding proteins and relevance to psychiatric disorders.

23 June 2018

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Genetic architecture in autism spectrum disorder

23 June 2018

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Approach to the genetic evaluation of the child with autism

23 June 2018

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Disrupted Homer scaffolds mediate abnormal mGluR5 function in a mouse model of fragile X syndrome

23 June 2018

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Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities

23 June 2018

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BC1-FMRP interaction is modulated by 2'-O-methylation: RNA-binding activity of the tudor domain and translational regulation at synapses

23 June 2018

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Phosphatase and tensin homolog (PTEN) gene mutations and autism: literature review and a case report of a patient with Cowden syndrome, autistic disorder, and epilepsy

23 June 2018

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Recurrence risk for autism spectrum disorders: a Baby Siblings Research Consortium study

23 June 2018

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FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism

23 June 2018

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Communication impairments in mice lacking Shank1: reduced levels of ultrasonic vocalizations and scent marking behavior

23 June 2018

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Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3

23 June 2018

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Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

23 June 2018

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Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development

23 June 2018

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Investigating SAPAP3 variants in the etiology of obsessive-compulsive disorder and trichotillomania in the South African white population

23 June 2018

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Family-based genetic association study of DLGAP3 in Tourette Syndrome

23 June 2018

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Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication

23 June 2018

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Sociability and motor functions in Shank1 mutant mice

23 June 2018

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Fragile X: leading the way for targeted treatments in autism

23 June 2018

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Functional impact of global rare copy number variation in autism spectrum disorders

23 June 2018

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De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

23 June 2018

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22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

23 June 2018

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Dysregulation of mTOR signaling in fragile X syndrome

23 June 2018

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Tsc2-Rheb signaling regulates EphA-mediated axon guidance

23 June 2018

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Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.

23 June 2018

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From mTOR to cognition: molecular and cellular mechanisms of cognitive impairments in tuberous sclerosis

23 June 2018

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Fragile X mental retardation protein regulates the levels of scaffold proteins and glutamate receptors in postsynaptic densities

23 June 2018

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Deregulation of EIF4E: a novel mechanism for autism.

23 June 2018

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A synaptic trek to autism

23 June 2018

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The genetic and neurobiologic compass points toward common signaling dysfunctions in autism spectrum disorders

23 June 2018

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Pharmacological inhibition of mTORC1 suppresses anatomical, cellular, and behavioral abnormalities in neural-specific Pten knock-out mice

23 June 2018

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Haploinsufficiency for Pten and Serotonin transporter cooperatively influences brain size and social behavior

23 June 2018

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Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

23 June 2018

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Multiple rare SAPAP3 missense variants in trichotillomania and OCD.

23 June 2018

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The Autistic Neuron: Troubled Translation?

23 June 2018

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Neuroligins and neurexins link synaptic function to cognitive disease

23 June 2018

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The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP

23 June 2018

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Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist

23 June 2018

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23 June 2018

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23 June 2018

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23 June 2018

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23 June 2018

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Familial deletion within NLGN4 associated with autism and Tourette syndrome

23 June 2018

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Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism

23 June 2018

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Disruption of neurexin 1 associated with autism spectrum disorder

23 June 2018

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23 June 2018

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Cognitive deficits in Tsc1+/- mice in the absence of cerebral lesions and seizures.

23 June 2018

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A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha

23 June 2018

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Contribution of SHANK3 mutations to autism spectrum disorder

23 June 2018

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A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice

23 June 2018

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Therapeutic suppression of translation initiation factor eIF4E expression reduces tumor growth without toxicity

23 June 2018

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Cortico-striatal synaptic defects and OCD-like behaviours in Sapap3-mutant mice.

23 June 2018

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

23 June 2018

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A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival

23 June 2018

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23 June 2018

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Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly

23 June 2018

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A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability

23 June 2018

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Silencing of neuroligin function by postsynaptic neurexins

23 June 2018

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Mapping autism risk loci using genetic linkage and chromosomal rearrangements

23 June 2018

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Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

23 June 2018

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High frequency of neurexin 1beta signal peptide structural variants in patients with autism

23 June 2018

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Neuroligins determine synapse maturation and function

23 June 2018

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Searching for ways out of the autism maze: genetic, epigenetic and environmental clues

23 June 2018

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Pten regulates neuronal arborization and social interaction in mice

23 June 2018

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Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism

23 June 2018

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SynGAP regulates synaptic strength and mitogen-activated protein kinases in cultured neurons

23 June 2018

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Epileptogenesis and reduced inward rectifier potassium current in tuberous sclerosis complex-1-deficient astrocytes

23 June 2018

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Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways

23 June 2018

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

23 June 2018

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Ontogeny of postsynaptic density proteins at glutamatergic synapses

23 June 2018

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Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations

23 June 2018

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Regulation of cap-dependent translation by eIF4E inhibitory proteins

23 June 2018

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Dysregulation of the TSC-mTOR pathway in human disease

23 June 2018

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Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients

23 June 2018

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Neurexins induce differentiation of GABA and glutamate postsynaptic specializations via neuroligins

23 June 2018

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Biochemical mechanisms for translational regulation in synaptic plasticity

23 June 2018

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Neuroligin 2 is exclusively localized to inhibitory synapses

23 June 2018

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Fragile X mental retardation protein is associated with translating polyribosomes in neuronal cells.

23 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

The fragile X mental retardation protein has nucleic acid chaperone properties

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Associated medical disorders and disabilities in children with autistic disorder: a population-based study

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Autism as a disorder of neural information processing: directions for research and targets for therapy

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Differential mRNA expression and protein localization of the SAP90/PSD-95-associated proteins (SAPAPs) in the nervous system of the mouse

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Rheb fills a GAP between TSC and TOR.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

A genomewide screen of 345 families for autism-susceptibility loci

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Epidemiological surveys of autism and other pervasive developmental disorders: an update

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Alpha-neurexins couple Ca2+ channels to synaptic vesicle exocytosis

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

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

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

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

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

FISH-mapping of a 100-kb terminal 22q13 deletion

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Structure and evolution of neurexin genes: insight into the mechanism of alternative splicing

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Hierarchical phosphorylation of the translation inhibitor 4E-BP1

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Regulation of dendritic spine morphology and synaptic function by Shank and Homer

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Abnormal development of dendritic spines in FMR1 knock-out mice

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

23 June 2018

22q13 deletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Evidence that fragile X mental retardation protein is a negative regulator of translation

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Dendritic spine structural anomalies in fragile-X mental retardation syndrome

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Neuroligin expressed in nonneuronal cells triggers presynaptic development in contacting axons

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

eIF4 initiation factors: effectors of mRNA recruitment to ribosomes and regulators of translation

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Characterization of the Shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and development

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Coupling of mGluR/Homer and PSD-95 complexes by the Shank family of postsynaptic density proteins

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Shank, a novel family of postsynaptic density proteins that binds to the NMDA receptor/PSD-95/GKAP complex and cortactin

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Proline-rich synapse-associated protein-1/cortactin binding protein 1 (ProSAP1/CortBP1) is a PDZ-domain protein highly enriched in the postsynaptic density

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Cap-dependent translation initiation in eukaryotes is regulated by a molecular mimic of eIF4G

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

eIF4E activity is regulated at multiple levels

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

PTEN: a tumour suppressor that functions as a phospholipid phosphatase

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Phosphorylation of the cap-binding protein eukaryotic translation initiation factor 4E by protein kinase Mnk1 in vivo

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Neuroligin 1 is a postsynaptic cell-adhesion molecule of excitatory synapses

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Homer binds a novel proline-rich motif and links group 1 metabotropic glutamate receptors with IP3 receptors

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Identification of a novel cortactin SH3 domain-binding protein and its localization to growth cones of cultured neurons

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

A synaptic Ras-GTPase activating protein (p135 SynGAP) inhibited by CaM kinase II

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

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

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Autism and associated medical disorders in a French epidemiological survey.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Macrocephaly in children and adults with autism.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

FMRP is associated to the ribosomes via RNA.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

The fragile X mental retardation protein is associated with ribosomes

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Absence of expression of the FMR-1 gene in fragile X syndrome

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Common EIF4E variants modulate risk for autism spectrum disorders in the high-functioning range.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Excess phosphoinositide 3-kinase subunit synthesis and activity as a novel therapeutic target in fragile X syndrome

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Autism and nonsyndromic mental retardation associated with a de novo mutation in the NLGN4X gene promoter causing an increased expression level.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Neuroligin-3-deficient mice: model of a monogenic heritable form of autism with an olfactory deficit.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Sapap3 and pathological grooming in humans: Results from the OCD collaborative genetics study.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Novel de novo SHANK3 mutation in autistic patients

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Abnormal striatal GABA transmission in the mouse model for the fragile X syndrome.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Deletions of VCX-A and NLGN4: a variable phenotype including normal intellect.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Measurements of TSC2 GAP activity toward Rheb.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Regulation of eukaryotic initiation factor 4E by converging signaling pathways during metabotropic glutamate receptor-dependent long-term depression.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

A reduced number of metabotropic glutamate subtype 5 receptors are associated with constitutive homer proteins in a mouse model of fragile X syndrome.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Postadolescent changes in regional cerebral protein synthesis: an in vivo study in the FMR1 null mouse.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Dendritic spine abnormalities in the occipital cortex of C57BL/6 Fmr1 knockout mice.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Phosphorylation influences the translation state of FMRP-associated polyribosomes

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Astrocyte-specific TSC1 conditional knockout mice exhibit abnormal neuronal organization and seizures.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Pten regulates neuronal soma size: a mouse model of Lhermitte-Duclos disease

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Deletion of Pten in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Macrocephaly in autism and other pervasive developmental disorders.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Cartography of neurexins: more than 1000 isoforms generated by alternative splicing and expressed in distinct subsets of neurons.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6002803

Altered synaptic plasticity in a mouse model of fragile X mental retardation

31 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1126%2FSCISIGNAL.2005832

Genetics of autism spectrum disorders

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25351249

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

1 reference

https://pubmed.ncbi.nlm.nih.gov/25351249

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1126/SCISIGNAL.2005832

1 reference

18 June 2018

PMCID

6002803

1 reference

18 June 2018

PubMed ID

25351249

1 reference

18 June 2018