|
rs121917893
|
|
|
0.090 |
GeneticVariation |
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 |
|
rs121917893
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Here, we investigated the expression of long-term synaptic plasticity at corticostriatal glutamatergic synapses in the dorsal striatum of the R451C-NL3 phenotypic mouse model of autism.
|
28921757 |
2018 |
|
rs121917893
|
|
|
0.090 |
GeneticVariation |
BEFREE |
NL3 R451C knockin (KI) mice exhibit autistic behavioral abnormalities, including social novelty deficits.
|
29503190 |
2018 |
|
rs121917893
|
|
|
0.090 |
GeneticVariation |
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 |
|
rs121917893
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Social Isolation Alters Social and Mating Behavior in the R451C Neuroligin Mouse Model of Autism.
|
28255463 |
2017 |
|
rs121917893
|
|
|
0.090 |
GeneticVariation |
BEFREE |
A single, maternally inherited, X-linked point mutation leading to an arginine to cysteine substitution at amino acid 451 (R451C) of Neuroligin 3 (NLGN3R451C) is a likely cause of autism in two brothers.
|
26469287 |
2015 |
|
rs121917893
|
|
|
0.090 |
GeneticVariation |
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 |
|
rs121917893
|
|
|
0.090 |
GeneticVariation |
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 |
|
rs121917893
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The Arg451Cys-neuroligin-3 mutation associated with autism reveals a defect in protein processing.
|
15152050 |
2004 |