Associated Papers
Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variants.
Record CJ et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2026
Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype.
Løseth S et al.
Brain : a Journal of Neurology, 2023
Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease.
Ando M et al.
Annals of Clinical and Translational Neurology, 2022
Diseases caused by mutations in the Na+/K+ pump α1 gene ATP1A1.
Biondo ED et al.
American Journal of Physiology. Cell Physiology, 2021
Protein kinase D1 variant associated with human epilepsy and peripheral nerve hypermyelination.
Omer S et al.
Clinical Genetics, 2021
Phospho-regulation, nucleotide binding and ion access control in potassium-chloride cotransporters.
Chi G et al.
The Embo Journal, 2021
The expanding genetic landscape of hereditary motor neuropathies.
Beijer D et al.
Brain : a Journal of Neurology, 2020
Osmotic Response of Dorsal Root Ganglion Neurons Expressing Wild-Type and Mutant KCC3 Transporters.
Flores B et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2020
De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy.
Park J et al.
Journal of Medical Genetics, 2020
Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs.
Van Poucke M et al.
European Journal of Human Genetics : Ejhg, 2019
The WNK-SPAK/OSR1 Kinases and the Cation-Chloride Cotransporters as Therapeutic Targets for Neurological Diseases.
Huang H et al.
Aging and Disease, 2019
A role for KCC3 in maintaining cell volume of peripheral nerve fibers.
Flores B et al.
Neurochemistry International, 2019
Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter.
Kahle KT et al.
Science Signaling, 2016
Regulated phosphorylation of the K-Cl cotransporter KCC3 is a molecular switch of intracellular potassium content and cell volume homeostasis.
Adragna NC et al.
Frontiers in Cellular Neuroscience, 2015
N-terminal serine dephosphorylation is required for KCC3 cotransporter full activation by cell swelling.
Melo Z et al.
The Journal of Biological Chemistry, 2013
Sites of regulated phosphorylation that control K-Cl cotransporter activity.
Rinehart J et al.
Cell, 2009