Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.
|
12669065 |
2003 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In humans, mutations in NLGN3 and NLGN4 are linked to autism and schizophrenia; NLGN2 missense variants are implicated in schizophrenia.
|
27865048 |
2017 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in neuroligin-3 predispose to autism, but how such mutations affect synaptic function remains incompletely understood.
|
27725662 |
2017 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This mouse model carries the human R451C mutation in the neuroligin 3 (NL3) gene that has been associated with highly penetrant autism in a Swedish family.
|
28921757 |
2018 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic defects in neuroligin 3 (NL3), a member of the NL protein family, are associated with autism.
|
31849609 |
2019 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, genetic analysis of humans showed a mutation in the neuroligin 2 gene in schizophrenic patients, while mutations in neuroligin 3 or 4 genes were found in autism.
|
25149987 |
2014 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These results indicate that mutations in NLGN3 and NLGN4 genes are responsible for at most a small fraction of autism cases and additional screenings in other autistic populations are needed to better determine the frequency with which mutations in NLGN3 and NLGN4 occur in autism.
|
15389766 |
2005 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our data thus suggest that different autism-associated neuroligin-3 mutations cause a common increase in acquired repetitive behaviors by impairing a specific striatal synapse and thereby provide a plausible circuit substrate for autism pathophysiology.
|
24995986 |
2014 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Lastly, we identified differences in the dimerization capacity of autism-associated neuroligin mutants, and found that neuroligin 3 R471C mutants can form heterodimers with neuroligin 1.
|
22671294 |
2012 |
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutation screening in the Greek population and evaluation of NLGN3 and NLGN4X genes causal factors for autism.
|
23851596 |
2013 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In the preliminary study of specific exons of NLGN3 and NLGN4 genes, we identified the p.K378R substitution (c.1597 A > G) in exon 5 of the NLGN4 gene in a patient who was found to have mild autism and normal IQ at 3 years of age.
|
19645625 |
2009 |
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism.
|
16648374 |
2006 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In mice, γ phase-locking factor was correlated with expression of the autism risk gene neuroligin-3 and neural deficits were modulated by the mGluR5-receptor antagonist MPEP.
|
21130222 |
2010 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here, we have investigated whether this protective cellular response is detectable in the knock-in mouse model of autism endogenously expressing R451C NLGN3.
|
30201312 |
2018 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
By incorporating the R451C mutation found in neuroligin (NLGN) and associated with autism and the thyroglobulin G2320R (G221R in NLGN) mutation responsible for congenital hypothyroidism into NLGN3, we show that mutations in the alpha/beta-hydrolase fold domain influence folding and biosynthetic processing of neuroligin3 as determined by in vitro susceptibility to proteases, glycosylation processing, turnover, and processing rates.
|
20615874 |
2010 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The Arg451Cys-neuroligin-3 mutation associated with autism reveals a defect in protein processing.
|
15152050 |
2004 |
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our data provided a further evidence for the involvement of NLGN3 and NLGN4X gene in the pathogenesis of autism in Chinese population.
|
24570023 |
2014 |
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Knockin mice expressing the Nlgn3R451C mutation in place of wild-type Nlgn3 demonstrate increased inhibitory synaptic strength in somatosensory cortex, resulting in an excitatory/inhibitory (E/I) imbalance that is potentially relevant for autism-associated behavioral deficits characteristic of these mice.
|
26469287 |
2015 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Altered synchrony and connectivity in neuronal networks expressing an autism-related mutation of neuroligin 3.
|
19406211 |
2009 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in neurexin 1 (NRXN1) as well as two other members of the neuroligin family, NLGN3 and NLGN4, have been associated with autism and mutations in NLGN4 have also been associated with intellectual disability, seizures, and EEG abnormalities.
|
22106001 |
2012 |
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
The neuroligin gene family consists of five members (NLGN1 at 3q26, NLGN2 at 17p13, NLGN3 at Xq13, NLGN4 at Xp22, and NLGN4Y at Yq11), of which NLGN1 and NLGN3 are located within the best loci observed in our previous genome-wide scan for autism in the Finnish sample.
|
16077734 |
2005 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Importantly, NLGN-3 and NLGN-4 mutations are strongly implicated as candidates underlying the development of neuropsychiatric disorders with social disturbances such as autism, but the role of NLGN-2 in neuropsychiatric disease states is unclear.
|
29339486 |
2018 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in genes encoding synaptic proteins including Neuroligin-3 are associated with autism.
|
31002480 |
2019 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection.
|
16508939 |
2006 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report the GI symptoms of two brothers with autism and an R451C mutation in Nlgn3 encoding the synaptic adhesion protein, neuroligin-3.
|
31119867 |
2019 |