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

Ilie, Alina, Gao, Andy Y.L., Boucher, Annie, Park, Jaeok, Berghuis, Albert M., Hoffer, Mariëtte J.V., Hilhorst-Hofstee, Yvonne, McKinney, R. Anne, Orlowski, John·2019·Neurobiology of Disease
DOI 10.1016/j.nbd.2018.10.002
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  • Some Slc9a6 mutant variants causing Christianson syndrome do not significantly alter NHE6 ion exchange properties, suggesting Christianson syndrome could be caused by loss of NHE6 scaffolding functions rather than loss of endosomal pH regulation.

    “However, some Slc9a6 mutant variants causing Christianson syndrome in humans do not significantly alter the ion exchange properties of NHE6 (Ilie et al., 2020; Ilie et al., 2019) suggesting that Christianson syndrome could be caused by loss of NHE6 scaffolding functions and not by loss of endosomal pH regulation.”

    From NHE6 depletion corrects ApoE4-mediated synaptic impairments and reduces amyloid plaque load (2021) · cites this paper as Ilie et al., 2019

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Metadata

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.
Venue
Neurobiology of Disease
Publisher
Elsevier BV
Published
2019-01
Volume
121
Pages
187-204
ISSN
0969-9961
DOI
10.1016/j.nbd.2018.10.002
Cited by
26
References
4
Language
en
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Funders
  • Canadian Institutes of Health Research ((MOP-111191, PJT-155976)
  • McGill Faculty of Medicine (MOP-86724)

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