A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome

Loss-of-function mutations in the recycling endosomal (Na+,K+)/H+ exchanger gene SLC9A6/NHE6 result in overacidification and dysfunction of endosomal-lysosomal compartments, and cause a neurodevelopmental and degenerative form of X-linked intellectual disability called Christianson Syndrome (CS). Ho...

Full description

Bibliographic Details
Main Authors: Alina Ilie, Andy Y.L. Gao, Annie Boucher, Jaeok Park, Albert M. Berghuis, Mariëtte J.V. Hoffer, Yvonne Hilhorst-Hofstee, R. Anne McKinney, John Orlowski
Format: Article
Language:English
Published: Elsevier 2019-01-01
Series:Neurobiology of Disease
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996118303048