Associated Papers
Molecular insights into disease-associated glutamate transporter (EAAT1 / SLC1A3) variants using in silico and in vitro approaches.
Gorostiola González M et al.
Frontiers in Molecular Biosciences, 2023
Ataxia-linked SLC1A3 mutations alter EAAT1 chloride channel activity and glial regulation of CNS function.
Wu Q et al.
The Journal of Clinical Investigation, 2022
Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.
Bhat S et al.
Pharmacology & Therapeutics, 2021
Cellular Physiology and Pathophysiology of EAAT Anion Channels.
Kovermann P et al.
Frontiers in Cellular Neuroscience, 2021
Functional consequences of SLC1A3 mutations associated with episodic ataxia 6.
Chivukula AS et al.
Human Mutation, 2020
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
Genetic Variants Associated with Episodic Ataxia in Korea.
Choi KD et al.
Scientific Reports, 2017
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