(Q38108556)

29 August 2017

title

Molecular basis for prospective pharmacological treatment strategies in intellectual disability syndromes (English)

1 reference

29 August 2017

0 references

intellectual disability

1 reference

disability affecting intellectual abilities

inferred from title

1 reference

Chiara Verpelli

1

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Carlo Sala

object named as

Carlo Sala

series ordinal

4

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author name string

Ivan Galimberti

series ordinal

2

1 reference

29 August 2017

Baltazar Gomez-Mancilla

series ordinal

3

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29 August 2017

publication date

19 July 2013

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29 August 2017

number of pages

10

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Developmental Neurobiology

inferred from page(s)

published in

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29 August 2017

volume

74

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29 August 2017

issue

2

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29 August 2017

page(s)

197-206

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Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene

29 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

From mRNP trafficking to spine dysmorphogenesis: the roots of fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Shared synaptic pathophysiology in syndromic and nonsyndromic rodent models of autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Therapeutic implications of the mGluR theory of fragile X mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Microanatomy of dendritic spines: emerging principles of synaptic pathology in psychiatric and neurological disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

MeCP2, a key contributor to neurological disease, activates and represses transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Control of excitatory and inhibitory synapse formation by neuroligins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Ubiquitination regulates PSD-95 degradation and AMPA receptor surface expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Increasing our understanding of human cognition through the study of Fragile X Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Cell adhesion molecules: signalling functions at the synapse

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Reduced cortical activity due to a shift in the balance between excitation and inhibition in a mouse model of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Fragile X mental retardation protein control of neuronal mRNA metabolism: Insights into mRNA stability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Neuroligins and neurexins: linking cell adhesion, synapse formation and cognitive function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Wild-type microglia arrest pathology in a mouse model of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Correction of fragile X syndrome in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Regulation of synaptic structure and function by FMRP-associated microRNAs miR-125b and miR-132

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

A balance of protein synthesis and proteasome-dependent degradation determines the maintenance of LTP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Mutant presenilins specifically elevate the levels of the 42 residue beta-amyloid peptide in vivo: evidence for augmentation of a 42-specific gamma secretase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Positive AMPA receptor modulation rapidly stimulates BDNF release and increases dendritic mRNA translation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

UBE3A/E6-AP mutations cause Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Familial deletion within NLGN4 associated with autism and Tourette syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Loss of activity-induced phosphorylation of MeCP2 enhances synaptogenesis, LTP and spatial memory

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

The fragile X mental retardation protein inhibits translation via interacting with mRNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

The fragile X protein controls microtubule-associated protein 1B translation and microtubule stability in brain neuron development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

EphB-mediated degradation of the RhoA GEF Ephexin5 relieves a developmental brake on excitatory synapse formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Structural variation of chromosomes in autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Psychopharmacology and mental retardation: a 10 year review (1990-1999).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Psychopharmacology research for individuals with mental retardation: methodological issues and suggestions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Antipsychotic drug side effects for persons with intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Chronic pharmacological mGlu5 inhibition corrects fragile X in adult mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Identifying autism loci and genes by tracing recent shared ancestry

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Dysregulated metabotropic glutamate receptor-dependent translation of AMPA receptor and postsynaptic density-95 mRNAs at synapses in a mouse model of fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Rho-linked genes and neurological disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Dendritic spine pathology in neuropsychiatric disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Juxtaparanodal clustering of Shaker-like K+ channels in myelinated axons depends on Caspr2 and TAG-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Rapid reversal of impaired inhibitory and excitatory transmission but not spine dysgenesis in a mouse model of mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Neuroligins and neurexins link synaptic function to cognitive disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Phosphorylation of MeCP2 at Serine 80 regulates its chromatin association and neurological function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

A circadian clock in hippocampus is regulated by interaction between oligophrenin-1 and Rev-erbα

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

The X-linked intellectual disability protein IL1RAPL1 regulates excitatory synapse formation by binding PTPδ and RhoGAP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Neuroligins determine synapse maturation and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

A functional genetic link between distinct developmental language disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Genetic causes of developmental disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Localization of sodium channels in axon hillocks and initial segments of retinal ganglion cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Analysis of the neuroligin 4Y gene in patients with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Directed differentiation of dopaminergic neuronal subtypes from human embryonic stem cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Ubiquitin and protein turnover in synapse function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Emerging roles for ubiquitin and protein degradation in neuronal function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

IL-1 receptor accessory protein-like 1 associated with mental retardation and autism mediates synapse formation by trans-synaptic interaction with protein tyrosine phosphatase δ

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

The fragile X syndrome protein FMRP associates with BC1 RNA and regulates the translation of specific mRNAs at synapses

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

MeCP2 phosphorylation is required for modulating synaptic scaling through mGluR5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

Pervasive neuroanatomic abnormalities of the brain in three cases of Rett's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

7 January 2021

inferred from DOI database lookup

The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22093

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1002/DNEU.22093

1 reference

29 August 2017

1 reference