Associated Papers
Ion Channel Dysregulation in Neurodevelopmental Disorders: Mechanisms, Models, and Therapeutic Advances.
Shi Z et al.
Frontiers in Bioscience (landmark Edition), 2026
Structural basis of adenine nucleotides regulation and neurodegenerative pathology in ClC-3 exchanger.
Wan Y et al.
Nature Communications, 2024
De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities.
Nakashima M et al.
Journal of Human Genetics, 2023
Altered voltage-dependence of slowly activating chloride-proton antiport by late endosomal ClC-6 explains distinct neurological disorders.
Zifarelli G et al.
The Journal of Physiology, 2022
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Duncan AR et al.
American Journal of Human Genetics, 2021
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