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

Ilie, A.; Gao, A.Y.L.; Boucher, A.; Park, J.; Berghuis, A.M.; Hoffer, M.J.V.; ... ; Orlowski, J. (2019)

Article / Letter to editor

• Christianson Syndrome
• X-linked intellectual disability
• Alkali cation/proton exchangers-SLC9A6/NHE6
• Endosomal pH homeostasis
• Membrane trafficking
• Neurodegeneration

• All authors: Ilie, A.; Gao, A.Y.L.; Boucher, A.; Park, J.; Berghuis, A.M.; Hoffer, M.J.V.; Hilhorst-Hofstee, Y.; McKinney, R.A.; Orlowski, J.
• Date: 2019-01-31
• Journal: Neurobiology of Disease
• Volume: 121
• Pages: 187 - 204
• DOI: doi:10.1016/j.nbd.2018.10.002