Article

Autism-associated variants of neuroligin 4X impair synaptogenic activity by various molecular mechanisms

2020-07-01

Abstract excerpt

<title>Abstract</title> <p>Background: Several genetic alterations, including point mutations and copy number variations in NLGN genes have been associated with psychiatric disorders, such as autism spectrum disorder (ASD) and X-linked mental retardation (XLMR). NLGN genes encode neuroligin (NL) proteins, which are adhesion molecules that are important for proper synaptic formation and maturation. Previously, we...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: d8897f54-0f8e-5545-af81-5a9f7b281e1e
DOI: 10.21203/rs.2.19938/v2

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Autism-associated variants of neuroligin 4X impair synaptogenic activity by various molecular mechanismsDOI 10.21203/rs.2.19938/v2Read

Autism-associated variants of neuroligin 4X impair synaptogenic activity by various molecular mechanisms.Semantic proximity Read

A Cluster of Autism-Associated Variants on X-Linked NLGN4X Functionally Resemble NLGN4Y.Semantic proximity Read

An Autism-Associated Mutation Impairs Neuroligin-4 Glycosylation and Enhances Excitatory Synaptic Transmission in Human Neurons.Semantic proximity Read

Functional significance of rare neuroligin 1 variants found in autism.Semantic proximity Read

Structural Mechanism for Modulation of Synaptic Neuroligin-Neurexin Signaling by MDGA Proteins.Semantic proximity Read

Not all neuroligin 3 and 4X missense variants lead to significant functional inactivation.Semantic proximity Read

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.Semantic proximity Read

Functional characterization of rare NRXN1 variants identified in autism spectrum disorders and schizophrenia.Semantic proximity Read

ASD-Associated <i>CNTNAP2</i> Variants Disrupt Neuronal Arborization Through Impaired Regulation by Ectodomain SheddingSemantic proximity Read

Structural and Functional Bioinformatics of Neurexin: A Step Towards Understanding Neurodevelopmental DisordersSemantic proximity Read

Autism-associated mutation inhibits protein kinase C-mediated neuroligin-4X enhancement of excitatory synapses.Semantic proximity Read

Rare missense variants of the leukocyte common antigen related receptor (LAR) display reduced activity in transcellular adhesion and synapse formationSemantic proximity Read