Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A3
Variant:p.P290R
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SLC1A3

NM_004172.5:p.P290R

Associated Papers

Identification of Polymorphisms in EAAT1 Glutamate Transporter Gene SLC1A3 Associated with Reduced Migraine Risk.

Albury CL et al.

Genes, 2024

Unravelling the Genetic Landscape of Hemiplegic Migraine: Exploring Innovative Strategies and Emerging Approaches.

Alfayyadh MM et al.

Genes, 2024

Hemiplegic migraine.

de Boer I et al.

Handbook of Clinical Neurology, 2024

Mutation in glutamate transporter homologue GltTk provides insights into pathologic mechanism of episodic ataxia 6.

Colucci E et al.

Nature Communications, 2023

Apo state pore opening as functional basis of increased EAAT anion channel activity in episodic ataxia 6.

Suslova M et al.

Frontiers in Physiology, 2023

Genetics of migraine: Delineation of contemporary understanding of the genetic underpinning of migraine.

de Boer I et al.

Handbook of Clinical Neurology, 2023

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

The twisting elevator mechanism of glutamate transporters reveals the structural basis for the dual transport-channel functions.

Chen I et al.

Current Opinion in Structural Biology, 2022

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

Molecular Basis of Coupled Transport and Anion Conduction in Excitatory Amino Acid Transporters.

Alleva C et al.

Neurochemical Research, 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

SLC1A3 variant associated with hemiplegic migraine and acetazolamide-responsive MRS changes.

Paucar M et al.

Neurology. Genetics, 2020

Genetics of migraine aura: an update.

de Boer I et al.

The Journal of Headache and Pain, 2020

SLC1A3 C3590T but not BDNF G196A is a predisposition factor for stress as well as depression, in an adolescent eastern Indian population.

Ghosh M et al.

Bmc Medical Genetics, 2020

Increased glutamate transporter-associated anion currents cause glial apoptosis in episodic ataxia 6.

Kovermann P et al.

Brain Communications, 2020

Excitatory Amino Acid Transporters in Physiology and Disorders of the Central Nervous System.

Malik AR et al.

International Journal of Molecular Sciences, 2019

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

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.

Guella I et al.

American Journal of Human Genetics, 2017

Potentiating SLC transporter activity: Emerging drug discovery opportunities.

Rives ML et al.

Biochemical Pharmacology, 2017

Late-onset episodic ataxia associated with SLC1A3 mutation.

Choi KD et al.

Journal of Human Genetics, 2017

Keeping Our Calcium in Balance to Maintain Our Balance.

Mark MD et al.

Biochemical and Biophysical Research Communications, 2017

Episodic Ataxias: Clinical and Genetic Features.

Choi KD et al.

Journal of Movement Disorders, 2016

Disruption of an EAAT-Mediated Chloride Channel in a Drosophila Model of Ataxia.

Parinejad N et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2016

The Clinical Spectrum of Autosomal-Dominant Episodic Ataxias.

Kipfer S et al.

Movement Disorders Clinical Practice, 2014

Functional properties of the retinal glutamate transporters GLT-1c and EAAT5.

Schneider N et al.

The Journal of Biological Chemistry, 2014

Mutating a conserved proline residue within the trimerization domain modifies Na+ binding to excitatory amino acid transporters and associated conformational changes.

Hotzy J et al.

The Journal of Biological Chemistry, 2013

A point mutation associated with episodic ataxia 6 increases glutamate transporter anion currents.

Winter N et al.

Brain : a Journal of Neurology, 2012

Genetics of recurrent vertigo and vestibular disorders.

Gazquez I et al.

Current Genomics, 2011

The role of amino acid transporters in inherited and acquired diseases.

Bröer S et al.

The Biochemical Journal, 2011

[Hereditary episodic ataxia].

Riant F et al.

Revue Neurologique, 2011

Inherited epithelial transporter disorders--an overview.

Bergeron MJ et al.

Journal of Inherited Metabolic Disease, 2008

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."