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

ABSTRACT:

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 and others found that the expression level of murine NL1 is regulated by proteolytic processing in a synaptic activity-dependent manner.

Methods

In this study, we analyzed the effects of missense variants associated with ASD and XLMR on the metabolism and function of NL4X, a protein which is encoded by the NLGN4X gene and is expressed only in humans, using cultured cells, primary neurons from

SUBMITTER: Yumoto T 

PROVIDER: S-EPMC7465329 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature