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Neuroligin 4, X-linked

NLGN4, neuroligin 4, NLGN4X
This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. The encoded protein interacts with discs, large (Drosophila) homolog 4 (DLG4). Mutations in this gene have been associated with autism and Asperger syndrome. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: neuroligin-1, NL3, NRXN1, CAN, ACID
Papers on NLGN4
Pathogenic mechanism of an autism-associated neuroligin mutation involves altered AMPA-receptor trafficking.
Südhof et al., Stanford, United States. In Mol Psychiatry, Feb 2016
Here, we examine the synaptic effects of an autism-associated neuroligin-4 substitution (called R704C), which mutates a cytoplasmic arginine residue that is conserved in all neuroligins.
Spatial sexual dimorphism of X and Y homolog gene expression in the human central nervous system during early male development.
Jazin et al., Uppsala, Sweden. In Biol Sex Differ, Dec 2015
CONCLUSIONS: This study has visualized the spatial distribution of PCDH11X/Y and NLGN4X/Y in human developing nervous tissue.
GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability.
Laumonnier et al., Tours, France. In Mol Psychiatry, Jul 2015
We performed a clinical, neurophysiological (in vivo electroencephalography-auditory-evoked related potentials) and genetic (whole-exome sequencing) follow-up analysis of two families with known deleterious NLGN4X gene mutations (either truncating or overexpressing) present in individuals with ASD and/or with intellectual disability (ID).
ATRX promotes gene expression by facilitating transcriptional elongation through guanine-rich coding regions.
Bérubé et al., London, Canada. In Hum Mol Genet, May 2015
We focused on a set of genes, including the autism susceptibility gene Neuroligin 4 (Nlgn4), that exhibit decreased expression in ATRX-null cells to investigate the mechanisms used by ATRX to promote gene transcription.
Autism-associated mutation inhibits protein kinase C-mediated neuroligin-4X enhancement of excitatory synapses.
Roche et al., Bethesda, United States. In Proc Natl Acad Sci U S A, Mar 2015
Point mutations have been identified in X-linked Neuroligin (NLGN) 3 and 4X genes in patients with ASDs and all of these reside in their extracellular domains except for a single point mutation in the cytoplasmic domain of NLGN4X in which an arginine is mutated to a cysteine (R704C).
Juvenile manifestation of ultrasound communication deficits in the neuroligin-4 null mutant mouse model of autism.
Ehrenreich et al., Göttingen, Germany. In Behav Brain Res, 2014
Neuroligin-4 (Nlgn4) is a member of the neuroligin family of postsynaptic cell adhesion molecules.
Variations analysis of NLGN3 and NLGN4X gene in Chinese autism patients.
Hu et al., Changsha, China. In Mol Biol Rep, 2014
In this study, four missense variations [p.G426S (NLGN3), p.G84R (NLGN4X), p.Q162 K (NLGN4X) and p.A283T (NLGN4X)] in four different unrelated patients have been identified by PCR and direct sequencing.
Gene expression signatures of primary and metastatic uterine leiomyosarcoma.
Wang et al., Oslo, Norway. In Hum Pathol, 2014
Genes overexpressed in primary uterine LMSs included OSTN, NLGN4X, NLGN1, SLITRK4, MASP1, XRN2, ASS1, RORB, HRASLS, and TSPAN7.
A genome-wide survey of transgenerational genetic effects in autism.
Weiss et al., San Francisco, United States. In Plos One, 2012
Some of these maternal and maternal-child associations were in or adjacent to autism candidate genes including: PCDH9, FOXP1, GABRB3, NRXN1, RELN, MACROD2, FHIT, RORA, CNTN4, CNTNAP2, FAM135B, LAMA1, NFIA, NLGN4X, RAPGEF4, and SDK1.
Investigating synapse formation and function using human pluripotent stem cell-derived neurons.
Ghosh et al., San Diego, United States. In Proc Natl Acad Sci U S A, 2011
The autism-associated DeltaE4 mutation in NLGN4 compromises the ability of NLGN4 to localize correctly to the cell surface when overexpressed and to induce synaptic differentiation.
[Autism, genetics and synaptic function alterations].
Briault et al., Orléans, France. In Pathol Biol (paris), 2010
The characterization of mutations in the NLGN4X gene in patients with Asperger syndrome, autism without MD, or MD without autism, was the first example.
Structural insights into the exquisite selectivity of neurexin/neuroligin synaptic interactions.
Marchot et al., Marseille, France. In Embo J, 2010
Results suggest that unique conformational reshaping of the neuroligin 4 surface is required to permit neurexin 1beta association.
Gender differences in cognitive ability associated with genetic variants of NLGN4.
Zhang et al., Xi'an, China. In Neuropsychobiology, 2009
results indicate that the genetic variants located in NLGN4 can affect the cognitive abilities of boys.
A substitution involving the NLGN4 gene associated with autistic behavior in the Greek population.
Kitsiou-Tzeli et al., Athens, Greece. In Genet Test Mol Biomarkers, 2009
finding further contributes to consideration of neuroligins as probable candidate genes for future molecular genetic studies, suggesting that a defect of synaptogenesis may predispose to autism
A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum export.
Südhof et al., Palo Alto, United States. In J Neurosci, 2009
Two brothers with classical autism spectrum disorder carry a single amino-acid substitution in neuroligin 4 (Arg87Trp). The substitution is absent from the brothers' asymptomatic parents, suggesting that it arose in the maternal germ line.
Genetics of autism spectrum disorders.
Christian et al., Chicago, United States. In Curr Neurol Neurosci Rep, 2009
Association studies and mutation analysis of candidate genes have implicated the synaptic genes NRXN1, NLGN3, NLGN4, SHANK3, and CNTNAP2 in ASDs.
Could autism with mental retardation result from digenism and frequent de novo mutations?
Gomot et al., Tours, France. In World J Biol Psychiatry, 2008
Multiplex XLMR pedigrees have been reported with only one mutated patient having autism and MR: different X-located MR genes have been shown to be involved (NLGN4, MECP2, OPHN1, ZNF674 and FRAXA) which does not suggest that they could be "autism genes".
The possible interplay of synaptic and clock genes in autism spectrum disorders.
Bourgeron, Paris, France. In Cold Spring Harb Symp Quant Biol, 2006
Results from genetic studies reveal one pathway associated with susceptibility to ASD, which includes the synaptic cell adhesion molecules NLGN3, NLGN4, and NRXN1 and a postsynaptic scaffolding protein SHANK3.
[Non-specific X-linked mental retardation].
Martínez-Castellano, Valencia, Spain. In Rev Neurol, 2006
Other types of functions of the known genes include establishing and modulating synapses (DLG3, IL1RAPL, NLGN4X, GDI1), regulating transcription (ZNF41, ZNF81, PQBP1) translation (FTSJ1), and fatty acid metabolism (FACL4), etc. CONCLUSIONS: Each gene that has been identified only accounts for a minor fraction of the total amount of XLMR, and even if taken together they still do not explain half the cases of non-specific XLMR.
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.
Paris Autism Research International Sibpair Study et al., Paris, France. In Nat Genet, 2003
report mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders
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