Associated Papers
Mutations in CLCN6 as a Novel Genetic Cause of Neuronal Ceroid Lipofuscinosis in Patients and a Murine Model.
He H et al.
Annals of Neurology, 2024
Structural basis of adenine nucleotides regulation and neurodegenerative pathology in ClC-3 exchanger.
Wan Y et al.
Nature Communications, 2024
Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease.
Polovitskaya MM et al.
The Journal of Biological Chemistry, 2024
Case report: ocular manifestations of a gain-of-function mutation in CLCN6, a newly diagnosed disease.
Kimera L et al.
Ophthalmic Genetics, 2024
Distinct ClC-6 and ClC-7 Cl- sensitivities provide insight into ClC-7's role in lysosomal Cl- homeostasis.
Coppola MA et al.
The Journal of Physiology, 2023
Molecular basis of ClC-6 function and its impairment in human disease.
Zhang B et al.
Science Advances, 2023
Biophysical Aspects of Neurodegenerative and Neurodevelopmental Disorders Involving Endo-/Lysosomal CLC Cl-/H+ Antiporters.
Coppola MA et al.
Life (basel, Switzerland), 2023
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Palmer EE et al.
Molecular Psychiatry, 2023
Vesicular CLC chloride/proton exchangers in health and diseases.
Picollo A
Frontiers in Pharmacology, 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
Neurodegeneration Upon Dysfunction of Endosomal/Lysosomal CLC Chloride Transporters.
Bose S et al.
Frontiers in Cell and Developmental Biology, 2021
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration.
Polovitskaya MM et al.
American Journal of Human Genetics, 2020
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