Neuroligins and neurexins link synaptic function to cognitive disease

TC Südhof - Nature, 2008 - nature.com
The brain processes information by transmitting signals at synapses, which connect neurons
into vast networks of communicating cells. In these networks, synapses not only transmit …

Genetic overlap between autism, schizophrenia and bipolar disorder

LS Carroll, MJ Owen - Genome medicine, 2009 - Springer
There is strong evidence that genetic factors make substantial contributions to the etiology of
autism, schizophrenia and bipolar disorders, with heritability estimates being at least 80 …

Deletions of NRXN1 (neurexin‐1) predispose to a wide spectrum of developmental disorders

MSL Ching, Y Shen, WH Tan, SS Jeste… - American Journal of …, 2010 - Wiley Online Library
Research has implicated mutations in the gene for neurexin‐1 (NRXN1) in a variety of
conditions including autism, schizophrenia, and nicotine dependence. To our knowledge …

Neurexins

C Reissner, F Runkel, M Missler - Genome biology, 2013 - Springer
The neurexin family of cell adhesion proteins consists of three members in vertebrates and
has homologs in several invertebrate species. In mammals, each neurexin gene encodes an …

Altered social behaviours in neurexin 1α knockout mice resemble core symptoms in neurodevelopmental disorders

HM Grayton, M Missler, DA Collier, C Fernandes - PloS one, 2013 - journals.plos.org
Background Copy number variants have emerged as an important genomic cause of
common, complex neurodevelopmental disorders. These usually change copy number of …

Dysfunction of the corticostriatal pathway in autism spectrum disorders

W Li, L Pozzo‐Miller - Journal of neuroscience research, 2020 - Wiley Online Library
The corticostriatal pathway that carries sensory, motor, and limbic information to the striatum
plays a critical role in motor control, action selection, and reward. Dysfunction of this …

Glutamatergic synapses in neurodevelopmental disorders

E Moretto, L Murru, G Martano, J Sassone… - Progress in Neuro …, 2018 - Elsevier
Neurodevelopmental disorders (NDDs) are a group of diseases whose symptoms arise
during childhood or adolescence and that impact several higher cognitive functions such as …

Voltage‐gated calcium channel nanodomains: molecular composition and function

MA Gandini, GW Zamponi - The FEBS journal, 2022 - Wiley Online Library
Voltage‐gated calcium (CaV) channels and their regulation by proteins at the synaptic cleft
play a critical role in neurotransmission. These interactions fine‐tune the synaptic response …

A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1α

FR Zahir, A Baross, AD Delaney, P Eydoux… - Journal of medical …, 2008 - jmg.bmj.com
The authors report a patient with mild mental retardation, autistic features, multiple vertebral
malformations, and an unusual facial appearance who carries a de novo submicroscopic …

α-Neurexins together with α2δ-1 auxiliary subunits regulate Ca2+ influx through Cav2. 1 channels

J Brockhaus, M Schreitmüller, D Repetto… - Journal of …, 2018 - Soc Neuroscience
Action potential-evoked neurotransmitter release is impaired in knock-out neurons lacking
synaptic cell-adhesion molecules α-neurexins (αNrxns), the extracellularly longer variants of …