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
Candidate Genes and Pathways Associated with Gilles de la Tourette Syndrome-Where Are We?
Levy AM et al.
Genes, 2021
34573303 (PubMed )
Supplement: genes-12-01321-s001.zip › genes-1240846-supplementary.pdf
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
Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants.
Sutherland HG et al.
Cells, 2020
Increased glutamate transporter-associated anion currents cause glial apoptosis in episodic ataxia 6.
Kovermann P et al.
Brain Communications, 2020
A novel mutation in SLC1A3 causes episodic ataxia.
Iwama K et al.
Journal of Human Genetics, 2018
Impaired K+ binding to glial glutamate transporter EAAT1 in migraine.
Kovermann P et al.
Scientific Reports, 2017
Progress in Genetic Studies of Tourette's Syndrome.
Qi Y et al.
Brain Sciences, 2017
Pathological glutamatergic neurotransmission in Gilles de la Tourette syndrome.
Kanaan AS et al.
Brain : a Journal of Neurology, 2017
Functional Evaluations of Genes Disrupted in Patients with Tourette's Disorder.
Sun N et al.
Frontiers in Psychiatry, 2016
The genetic basis of Gilles de la Tourette Syndrome.
Paschou P
Neuroscience and Biobehavioral Reviews, 2013
Genetic and functional studies of a missense variant in a glutamate transporter, SLC1A3, in Tourette syndrome.
Adamczyk A et al.
Psychiatric Genetics, 2011
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