Article
A Cluster of Autism-Associated Variants on X-Linked NLGN4X Functionally Resemble NLGN4Y.
Neuron - 3 Jun 2020
Nguyen Thien A, Wu Kunwei, Pandey Saurabh, Lehr Alexander W, Li Yan, Bemben Michael A, Badger John D, Lauzon Julie L, Wang Tongguang, Zaghloul Kareem A, Thurm Audrey, Jain Mahim, Lu Wei, Roche Katherine W
Abstract excerpt
Autism spectrum disorder (ASD) is more prevalent in males; however, the etiology for this sex bias is not well understood. Many mutations on X-linked cell adhesion molecule NLGN4X result in ASD or intellectual disability. NLGN4X is part of an X-Y pair, with NLGN4Y sharing ∼97% sequence homology. Using biochemistry, electrophysiology, and imaging, we show that NLGN4Y displays severe deficits in maturation, surface...
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