Neurexins in autism and schizophrenia—a review of patient mutations, mouse models and potential future directions

A Tromp, B Mowry, J Giacomotto - Molecular psychiatry, 2021 - nature.com
Mutations in the family of neurexins (NRXN1, NRXN2 and NRXN3) have been repeatedly
identified in patients with autism spectrum disorder (ASD) and schizophrenia (SCZ) …

Using zebrafish to model autism spectrum disorder: a comparison of ASD risk genes between zebrafish and their mammalian counterparts

V Rea, TJ Van Raay - Frontiers in molecular neuroscience, 2020 - frontiersin.org
Autism spectrum disorders (ASDs) are a highly variable and complex set of neurological
disorders that alter neurodevelopment and cognitive function, which usually presents with …

Genome-wide association study of smoking trajectory and meta-analysis of smoking status in 842,000 individuals

K Xu, B Li, KA McGinnis, R Vickers-Smith, C Dao… - Nature …, 2020 - nature.com
Here we report a large genome-wide association study (GWAS) for longitudinal smoking
phenotypes in 286,118 individuals from the Million Veteran Program (MVP) where we …

Neurexins cluster Ca2+ channels within the presynaptic active zone

F Luo, A Sclip, M Jiang, TC Südhof - The EMBO journal, 2020 - embopress.org
To achieve ultrafast neurotransmission, neurons assemble synapses with highly organized
presynaptic and postsynaptic nanomachines that are aligned by synaptic adhesion …

At-risk genomic findings for pediatric-onset disorders from genome sequencing vs medically actionable gene panel in proactive screening of newborns and children

J Balciuniene, R Liu, L Bean, F Guo… - JAMA Network …, 2023 - jamanetwork.com
Importance Although the clinical utility of genome sequencing for critically ill children is well
recognized, its utility for proactive pediatric screening is not well explored. Objective To …

Genetic insights and neurobiological implications from NRXN1 in neuropsychiatric disorders

Z Hu, X Xiao, Z Zhang, M Li - Molecular psychiatry, 2019 - nature.com
Many neuropsychiatric and neurodevelopmental disorders commonly share genetic risk
factors. To date, the mechanisms driving the pathogenesis of these disorders, particularly …

The neurodevelopmental spectrum of synaptic vesicle cycling disorders

A John, E Ng‐Cordell, N Hanna… - Journal of …, 2021 - Wiley Online Library
In this review, we describe and discuss neurodevelopmental phenotypes arising from rare,
high penetrance genomic variants which directly influence synaptic vesicle cycling (SVC …

The epilepsy–autism spectrum disorder phenotype in the era of molecular genetics and precision therapy

N Specchio, V Di Micco, M Trivisano, A Ferretti… - …, 2022 - Wiley Online Library
Autism spectrum disorder (ASD) is frequently associated with infants with epileptic
encephalopathy, and early interventions targeting social and cognitive deficits can have …

Genetic mechanisms of regression in autism spectrum disorder

K Tammimies - Neuroscience & Biobehavioral Reviews, 2019 - Elsevier
Developmental regression occurs in approximately one-third of children with autism
spectrum disorder (ASD). There is a strong genetic influence in ASD and hundreds of genes …

Landscape of NRXN1 Gene Variants in Phenotypic Manifestations of Autism Spectrum Disorder: A Systematic Review

JN Cooper, J Mittal, A Sangadi, DL Klassen… - Journal of Clinical …, 2024 - mdpi.com
Background: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition
characterized by social communication challenges and repetitive behaviors. Recent …