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Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1 |
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| Dolores Piniella, Ania Canseco, Silvia Vidal, Clara Xiol, Aránzazu Díaz de Bustamante, Itxaso Martí-Carrera, Judith Armstrong, Ugo Bastolla, Francisco Zafra |
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| International Journal of Molecular Sciences. 2023; 24(2): 955 |
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| 2 |
Molecular and Clinical Repercussions of GABA Transporter 1 Variants Gone Amiss: Links to Epilepsy and Developmental Spectrum Disorders |
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| Florian P. Fischer, Ameya S. Kasture, Thomas Hummel, Sonja Sucic |
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| Frontiers in Molecular Biosciences. 2022; 9 |
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| 3 |
Genetic mosaicism, intrafamilial phenotypic heterogeneity, and molecular defects of a novel missense SLC6A1 mutation associated with epilepsy and ADHD |
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| Sarah Poliquin, Inna Hughes, Wangzhen Shen, Felicia Mermer, Juexin Wang, Taralynn Mack, Dong Xu, Jing-Qiong Kang |
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| Experimental Neurology. 2021; 342: 113723 |
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Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits |
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| Shreyas Bhat, Ali El-Kasaby, Michael Freissmuth, Sonja Sucic |
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| Pharmacology & Therapeutics. 2021; 222: 107785 |
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SLC6A1 and Neuropsychiatric Diseases: The Role of Mutations and Prospects for Treatment with Genome Editing Systems |
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| E. S. Bukina, N. V. Kondratyev, S. V. Kozin, V. E. Golimbet, A. S. Artyuhov, E. B. Dashinimaev |
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| Neurochemical Journal. 2021; 15(4): 376 |
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Endoplasmic reticulum retention and degradation of a mutation in SLC6A1 associated with epilepsy and autism |
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| Jie Wang, Sarah Poliquin, Felicia Mermer, Jaclyn Eissman, Eric Delpire, Juexin Wang, Wangzhen Shen, Kefu Cai, Bing-Mei Li, Zong-Yan Li, Dong Xu, Gerald Nwosu, Carson Flamm, Wei-Ping Liao, Yi-Wu Shi, Jing-Qiong Kang |
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| Molecular Brain. 2020; 13(1) |
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A Reappraisal of GAT-1 Localization in Neocortex |
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| Giorgia Fattorini, Marcello Melone, Fiorenzo Conti |
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| Frontiers in Cellular Neuroscience. 2020; 14 |
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