(Q39283013)

10 September 2017

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

1 reference

Interleukin 1 receptor accessory protein like 1

10 September 2017

0 references

1 reference

Protein tyrosine phosphatase receptor type D

1 reference

Rho GTPase activating protein 22

1 reference

Interleukin 1 receptor accessory protein like 2

1 reference

regulation of presynapse assembly

1 reference

X-linked intellectual disability

0 references

disability affecting intellectual abilities

1 reference

Carlo Sala

6

0 references

author name string

Pamela Valnegri

1

1 reference

10 September 2017

Chiara Montrasio

2

1 reference

10 September 2017

Dario Brambilla

3

1 reference

10 September 2017

Jaewon Ko

4

1 reference

10 September 2017

Maria Passafaro

5

1 reference

10 September 2017

17 September 2011

1 reference

10 September 2017

Human Molecular Genetics

1 reference

10 September 2017

20

1 reference

10 September 2017

4797-4809

1 reference

10 September 2017

24

1 reference

Synaptic activity controls dendritic spine morphology by modulating eEF2-dependent BDNF synthesis

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

Trans-synaptic adhesions between netrin-G ligand-3 (NGL-3) and receptor tyrosine phosphatases LAR, protein-tyrosine phosphatase delta (PTPdelta), and PTPsigma via specific domains regulate excitatory synapse formation

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

A synaptic trek to autism

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

Genetics of autism spectrum disorders.

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

Rac activation and inactivation control plasticity of tumor cell movement

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

ErbB4-neuregulin signaling modulates synapse development and dendritic arborization through distinct mechanisms

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

Proteomic analysis of activity-dependent synaptic plasticity in hippocampal neurons.

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

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

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

NGL family PSD-95-interacting adhesion molecules regulate excitatory synapse formation

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

Rho GTPases: biochemistry and biology

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

Neuroligins mediate excitatory and inhibitory synapse formation: involvement of PSD-95 and neurexin-1beta in neuroligin-induced synaptic specificity.

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

The role of the Rho GTPases in neuronal development

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

Neurexins induce differentiation of GABA and glutamate postsynaptic specializations via neuroligins

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

Synaptic adhesion molecules.

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

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

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

Receptor protein tyrosine phosphatases in nervous system development

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

The presynaptic particle web: ultrastructure, composition, dissolution, and reconstitution

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

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

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

Large-scale analysis of the yeast proteome by multidimensional protein identification technology

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

LRRTM2 interacts with Neurexin1 and regulates excitatory synapse formation

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

Selected SALM (synaptic adhesion-like molecule) family proteins regulate synapse formation.

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

Mutations in the calcium-related gene IL1RAPL1 are associated with autism

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

Postsynaptic TrkC and presynaptic PTPσ function as a bidirectional excitatory synaptic organizing complex.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

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

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

Trans-synaptic adhesion between NGL-3 and LAR regulates the formation of excitatory synapses

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

A study on the correlation between IL1RAPL1 and human cognitive ability.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

Lipid rafts in the maintenance of synapses, dendritic spines, and surface AMPA receptor stability.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3221541

Insertion of the IL1RAPL1 gene into the duplication junction of the dystrophin gene

21 August 2018

1 reference

12 December 2020

Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature

1 reference

12 December 2020

Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism

1 reference

12 December 2020

Mixed-culture assays for analyzing neuronal synapse formation

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDR418

1 reference

10 September 2017

1 reference

10 September 2017

1 reference