Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A5
Variant:p.T906A
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SLC12A5

NM_020708.5:p.T906A

Associated Papers

Development of KCC2 therapeutics to treat neurological disorders.

Kadam SD et al.

Frontiers in Molecular Neuroscience, 2024

Uncovering novel KCC2 regulatory motifs through a comprehensive transposon-based mutant library.

Uvarov P et al.

Frontiers in Molecular Neuroscience, 2024

Excitatory/inhibitory balance in epilepsies and neurodevelopmental disorders: Depolarizing γ-aminobutyric acid as a common mechanism.

van van Hugte EJH et al.

Epilepsia, 2023

Targeting ischemia-induced KCC2 hypofunction rescues refractory neonatal seizures and mitigates epileptogenesis in a mouse model.

Sullivan BJ et al.

Science Signaling, 2021

Physiological Processes Modulated by the Chloride-Sensitive WNK-SPAK/OSR1 Kinase Signaling Pathway and the Cation-Coupled Chloride Cotransporters.

Murillo-de-Ozores AR et al.

Frontiers in Physiology, 2020

Impaired regulation of KCC2 phosphorylation leads to neuronal network dysfunction and neurodevelopmental pathology.

Pisella LI et al.

Science Signaling, 2019

Developmentally regulated KCC2 phosphorylation is essential for dynamic GABA-mediated inhibition and survival.

Watanabe M et al.

Science Signaling, 2019

Developmental Regulation of KCC2 Phosphorylation Has Long-Term Impacts on Cognitive Function.

Moore YE et al.

Frontiers in Molecular Neuroscience, 2019

Identification of KCC2 Mutations in Human Epilepsy Suggests Strategies for Therapeutic Transporter Modulation.

Duy PQ et al.

Frontiers in Cellular Neuroscience, 2019

A novel regulatory locus of phosphorylation in the C terminus of the potassium chloride cotransporter KCC2 that interferes with N-ethylmaleimide or staurosporine-mediated activation.

Weber M et al.

The Journal of Biological Chemistry, 2014

Taurine inhibits K+-Cl- cotransporter KCC2 to regulate embryonic Cl- homeostasis via with-no-lysine (WNK) protein kinase signaling pathway.

Inoue K et al.

The Journal of Biological Chemistry, 2012

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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."