Associated Papers
Ion channels research in hPSC-RPE cells: bridging benchwork to clinical applications.
Xu P et al.
Journal of Translational Medicine, 2024
Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia.
Nóbrega PR et al.
Brain Communications, 2024
Cryo-EM structures of ClC-2 chloride channel reveal the blocking mechanism of its specific inhibitor AK-42.
Ma T et al.
Nature Communications, 2023
Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function.
Xu P et al.
Human Genetics, 2023
Co-occurrence of CLCN2-related leukoencephalopathy and SPG56.
Almasoudi W et al.
Clinical Parkinsonism & Related Disorders, 2023
Regulation of ClC-2 Chloride Channel Proteostasis by Molecular Chaperones: Correction of Leukodystrophy-Associated Defect.
Fu SJ et al.
International Journal of Molecular Sciences, 2021
CUL4-DDB1-CRBN E3 Ubiquitin Ligase Regulates Proteostasis of ClC-2 Chloride Channels: Implication for Aldosteronism and Leukodystrophy.
Fu SJ et al.
Cells, 2020
CLCN2-related leukoencephalopathy: a case report and review of the literature.
Guo Z et al.
Bmc Neurology, 2019
Leukoencephalopathy-causing CLCN2 mutations are associated with impaired Cl- channel function and trafficking.
Gaitán-Peñas H et al.
The Journal of Physiology, 2017
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