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

Author(s):
Ilie, A.; Gao, A.Y.L.; Boucher, A.; Park, J.; Berghuis, A.M.; Hoffer, M.J.V. (0000-0002-1812-7670); Hilhorst-Hofstee, Y.; McKinney, R.A.; Orlowski, J.
Published
2019
Publication type
Article / Letter to editor
Christianson SyndromeX-linked intellectual disabilityAlkali cation/proton exchangers-SLC9A6/NHE6Endosomal pH homeostasisMembrane traffickingNeurodegeneration
Date issued
2019-01-31
Language
English
Is part of
Neurobiology of Disease (2019), Vol. 121, p. 187-204
hdl
1887/119533
doi
10.1016/j.nbd.2018.10.002