The role of neuronal complexes in human X-linked brain diseases (Q24680472)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17236127%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

review article

1 reference

title

The role of neuronal complexes in human X-linked brain diseases (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17236127%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

0 references

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17236127%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Seth G. Grant

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17236127%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

author name string

Peter C Cuthbert

series ordinal

2

1 reference

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24 December 2019

language of work or name

English

0 references

publication date

9 January 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17236127%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

24 December 2019

published in

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24 December 2019

volume

80

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24 December 2019

issue

2

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24 December 2019

page(s)

205-220

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Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

24 December 2019

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MAP kinase pathway-dependent phosphorylation of the L1-CAM ankyrin binding site regulates neuronal growth

7 April 2017

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7 April 2017

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Neurexins induce differentiation of GABA and glutamate postsynaptic specializations via neuroligins

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

7 April 2017

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

7 April 2017

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

7 April 2017

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

7 April 2017

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A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation

7 April 2017

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Enhanced long-term potentiation and impaired learning in mice with mutant postsynaptic density-95 protein

7 April 2017

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Reduced hippocampal LTP and spatial learning in mice lacking NMDA receptor epsilon 1 subunit

7 April 2017

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Proteins of the postsynaptic density

7 April 2017

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

7 April 2017

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Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism

7 April 2017

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Neuroligins determine synapse maturation and function

7 April 2017

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Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

7 April 2017

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Molecular characterization and comparison of the components and multiprotein complexes in the postsynaptic proteome

7 April 2017

2 references

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

7 April 2017

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Identification and verification of novel rodent postsynaptic density proteins

7 April 2017

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Semiquantitative proteomic analysis of rat forebrain postsynaptic density fractions by mass spectrometry

7 April 2017

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

7 April 2017

1 reference

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PDZ domains and the organization of supramolecular complexes

7 April 2017

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Proteomic analysis of NMDA receptor-adhesion protein signaling complexes

7 April 2017

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The proteolipid protein gene and myelin disorders in man and animal models

7 April 2017

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Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation

7 April 2017

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7 April 2017

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7 April 2017

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Interaction of the N-methyl-D-aspartate receptor complex with a novel synapse-associated protein, SAP102

7 April 2017

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The molecular biology of memory storage: a dialogue between genes and synapses

7 April 2017

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7 April 2017

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Synapse-associated protein 102/dlgh3 couples the NMDA receptor to specific plasticity pathways and learning strategies.

7 April 2017

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Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation

28 September 2017

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Organization of brain complexity--synapse proteome form and function

28 September 2017

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The proteomes of neurotransmitter receptor complexes form modular networks with distributed functionality underlying plasticity and behaviour

28 September 2017

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Genetics and pathophysiology of mental retardation

28 September 2017

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mRNPs, polysomes or granules: FMRP in neuronal protein synthesis

28 September 2017

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Dendritic pathology in mental retardation: from molecular genetics to neurobiology.

28 September 2017

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X-linked mental retardation: many genes for a complex disorder

28 September 2017

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Behavioural pharmacology: 40+ years of progress, with a focus on glutamate receptors and cognition

28 September 2017

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Cell-cell interactions in synaptogenesis

28 September 2017

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The synapse proteome and phosphoproteome: a new paradigm for synapse biology

28 September 2017

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28 September 2017

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How to build a central synapse: clues from cell culture

28 September 2017

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Ribosomal S6 kinase 2 interacts with and phosphorylates PDZ domain-containing proteins and regulates AMPA receptor transmission

28 September 2017

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Synapse proteomics of multiprotein complexes: en route from genes to nervous system diseases.

28 September 2017

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28 September 2017

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Molecular mechanisms of dendritic spine development and remodeling

28 September 2017

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X-linked mental retardation: further lumping, splitting and emerging phenotypes

28 September 2017

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28 September 2017

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Disease-associated mutations cause premature oligomerization of myelin proteolipid protein in the endoplasmic reticulum.

28 September 2017

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28 September 2017

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Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view.

28 September 2017

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Rho proteins, mental retardation and the neurobiological basis of intelligence

28 September 2017

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Proteomic analysis of native metabotropic glutamate receptor 5 protein complexes reveals novel molecular constituents

28 September 2017

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Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation

28 September 2017

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Molecular and comparative genetics of mental retardation

28 September 2017

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Molecular constituents of the postsynaptic density fraction revealed by proteomic analysis using multidimensional liquid chromatography-tandem mass spectrometry.

28 September 2017

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The fragile X mental retardation protein is required for type-I metabotropic glutamate receptor-dependent translation of PSD-95

28 September 2017

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Proteomics analysis of rat brain postsynaptic density. Implications of the diverse protein functional groups for the integration of synaptic physiology

28 September 2017

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Clinical and molecular contributions to the understanding of X-linked mental retardation

28 September 2017

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Cell-cell signaling during synapse formation in the CNS.

28 September 2017

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Assembly and plasticity of the glutamatergic postsynaptic specialization

28 September 2017

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NMDA receptor pathways as drug targets

28 September 2017

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Signals from the X: signal transduction and X-linked mental retardation

28 September 2017

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Syntrophins and dystrobrevins: defining the dystrophin scaffold at synapses

28 September 2017

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A high density of X-linked genes for general cognitive ability: a run-away process shaping human evolution?

28 September 2017

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Principles of glutamatergic synapse formation: seeing the forest for the trees

28 September 2017

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Functional analysis of pathogenicity genes in a genomics world

28 September 2017

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Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome

28 September 2017

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28 September 2017

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Neural cell recognition molecule L1: relating biological complexity to human disease mutations

28 September 2017

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

28 September 2017

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Generation of constitutively active p90 ribosomal S6 kinase in vivo. Implications for the mitogen-activated protein kinase-activated protein kinase family

28 September 2017

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Motor deficit and impairment of synaptic plasticity in mice lacking mGluR1.

28 September 2017

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Isolation of postsynaptic densities from rat brain

28 September 2017

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Review of recent epidemiological studies of mental retardation: prevalence, associated disorders, and etiology

28 September 2017

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Detection of dystrophin in the postsynaptic density of rat brain and deficiency in a mouse model of Duchenne muscular dystrophy

28 September 2017

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Glutamate stimulates oligodendrocyte progenitor migration mediated via an alphav integrin/myelin proteolipid protein complex.

28 September 2017

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NMDA receptors are expressed in developing oligodendrocyte processes and mediate injury

30 May 2018

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NMDA receptors are expressed in oligodendrocytes and activated in ischaemia.

30 May 2018

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A manually curated functional annotation of the human X chromosome.

30 May 2018

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Organization of glutamate receptors at the synapse

30 May 2018

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The incidence of mental and physical handicaps in school age children of very low birth weight. II.

30 May 2018

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Mental retardation in over half-a-million consecutive livebirths: an epidemiological study

30 May 2018

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Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism.

30 May 2018

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Alternative splicing controls selective trans-synaptic interactions of the neuroligin-neurexin complex.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785339

Neurone specific regulation of dendritic spines in vivo by post synaptic density 95 protein (PSD-95).

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785339

A conserved role for Drosophila Neuroglian and human L1-CAM in central-synapse formation.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785339

Dystrophin is required for appropriate retrograde control of neurotransmitter release at the Drosophila neuromuscular junction.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785339

CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785339

The X chromosome: not just her brother's keeper.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785339

X-linked mental retardation

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785339

Proteomic analysis of in vivo phosphorylated synaptic proteins.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785339

The role of L1 in axon pathfinding and fasciculation.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785339

Synaptic transmission and plasticity in the absence of AMPA glutamate receptor GluR2 and GluR3.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785339

Abnormalities in neuronal process extension, hippocampal development, and the ventricular system of L1 knockout mice.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785339

A proteolipid protein gene family: expression in sharks and rays and possible evolution from an ancestral gene encoding a pore-forming polypeptide

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17236127

12 December 2020

inferred from PubMed ID database lookup

Deficiency of brain synaptic dystrophin in human Duchenne muscular dystrophy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17236127

12 December 2020

inferred from PubMed ID database lookup

Glutamate receptors: brain function and signal transduction

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17236127

12 December 2020

inferred from PubMed ID database lookup

Interaction of theN-Methyl—aspartate Receptor Complex with a Novel Synapse-associated Protein, SAP102

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F511441

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/511441

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17236127%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17236127%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

1 reference