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Roles of Endomembrane Alkali Cation/Proton Exchangers in Synaptic Function and Neurodevelopmental Disorders.
Front Physiol. 2022 Apr 25;13:892196. doi: 10.3389/fphys.2022.892196. eCollection 2022.
Front Physiol. 2022.
PMID: 35547574
Free PMC article.
Review.
A Christianson syndrome-linked deletion mutation (Δ287ES288) in SLC9A6 impairs hippocampal neuronal plasticity.
Gao AYL, Ilie A, Chang PKY, Orlowski J, McKinney RA.
Gao AYL, et al.
Neurobiol Dis. 2019 Oct;130:104490. doi: 10.1016/j.nbd.2019.104490. Epub 2019 Jun 6.
Neurobiol Dis. 2019.
PMID: 31175985
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A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome.
Ilie A, Gao AYL, Boucher A, Park J, Berghuis AM, Hoffer MJV, Hilhorst-Hofstee Y, McKinney RA, Orlowski J.
Ilie A, et al. Among authors: gao ayl.
Neurobiol Dis. 2019 Jan;121:187-204. doi: 10.1016/j.nbd.2018.10.002. Epub 2018 Oct 5.
Neurobiol Dis. 2019.
PMID: 30296617
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Activity-dependent neuroprotective protein deficiency models synaptic and developmental phenotypes of autism-like syndrome.
Hacohen-Kleiman G, Sragovich S, Karmon G, Gao AYL, Grigg I, Pasmanik-Chor M, Le A, Korenková V, McKinney RA, Gozes I.
Hacohen-Kleiman G, et al. Among authors: gao ayl.
J Clin Invest. 2018 Nov 1;128(11):4956-4969. doi: 10.1172/JCI98199. Epub 2018 Sep 24.
J Clin Invest. 2018.
PMID: 30106381
Free PMC article.
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Generalizing Duchenne to sad expressions with binocular rivalry and perception ratings.
Malek N, Messinger D, Gao AYL, Krumhuber E, Mattson W, Joober R, Tabbane K, Martinez-Trujillo JC.
Malek N, et al. Among authors: gao ayl.
Emotion. 2019 Mar;19(2):234-241. doi: 10.1037/emo0000410. Epub 2018 Jun 11.
Emotion. 2019.
PMID: 29888933
Free article.
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A Christianson syndrome-linked deletion mutation (∆(287)ES(288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death.
Ilie A, Gao AY, Reid J, Boucher A, McEwan C, Barrière H, Lukacs GL, McKinney RA, Orlowski J.
Ilie A, et al.
Mol Neurodegener. 2016 Sep 2;11(1):63. doi: 10.1186/s13024-016-0129-9.
Mol Neurodegener. 2016.
PMID: 27590723
Free PMC article.
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