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

ABSTRACT:

Introduction

Neuroligins are postsynaptic cell adhesion molecules that interact with neurexins to regulate the fine balance between excitation and inhibition of synapses. Recently, accumulating evidence, involving mutation analysis, cellular assays, and mouse models, has suggested that neuroligin (NLGN) mutations affect synapse maturation and function. Previously, four missense variations [p.G426S (NLGN3), p.G84R (NLGN4X), p.Q162K (NLGN4X), and p.A283T (NLGN4X)] in four different unrelated patients have been identified by PCR and direct sequencing.

Methods

In this study, we analyzed the functional effect of these missense variations by in vitro experiment via the stable HEK293 cells expressing wild-type and mutant neuroligin.

Results

We found that the four mutations d

SUBMITTER: Xu X 

PROVIDER: S-EPMC5607556 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature