Molecular basis of ClC-6 function and its impairment in human disease
B Zhang, S Zhang, MM Polovitskaya, J Yi, B Ye, R Li… - Science …, 2023 - science.org
ClC-6 is a late endosomal voltage-gated chloride-proton exchanger that is predominantly
expressed in the nervous system. Mutated forms of ClC-6 are associated with severe …
expressed in the nervous system. Mutated forms of ClC-6 are associated with severe …
Biophysical Aspects of Neurodegenerative and Neurodevelopmental Disorders Involving Endo-/Lysosomal CLC Cl−/H+ Antiporters
MA Coppola, A Tettey-Matey, P Imbrici, P Gavazzo… - Life, 2023 - mdpi.com
Endosomes and lysosomes are intracellular vesicular organelles with important roles in cell
functions such as protein homeostasis, clearance of extracellular material, and autophagy …
functions such as protein homeostasis, clearance of extracellular material, and autophagy …
Structural basis of adenine nucleotides regulation and neurodegenerative pathology in ClC-3 exchanger
Y Wan, S Guo, W Zhen, L Xu, X Chen, F Liu… - Nature …, 2024 - nature.com
The ClC-3 chloride/proton exchanger is both physiologically and pathologically critical, as it
is potentiated by ATP to detect metabolic energy level and point mutations in ClC-3 lead to …
is potentiated by ATP to detect metabolic energy level and point mutations in ClC-3 lead to …
Vesicular CLC chloride/proton exchangers in health and diseases
A Picollo - Frontiers in Pharmacology, 2023 - frontiersin.org
Chloride is one of the most abundant anions in the human body; it is implicated in several
physiological processes such as the transmission of action potentials, transepithelial salt …
physiological processes such as the transmission of action potentials, transepithelial salt …
Melatonin protects Kir2. 1 function in an oxidative stress‐related model of aging neuroglia
A Remigante, S Spinelli, P Zuccolini, P Gavazzo… - …, 2024 - Wiley Online Library
Melatonin is a pleiotropic biofactor and an effective antioxidant and free radical scavenger
and, as such, can be protective in oxidative stress‐related brain conditions including …
and, as such, can be protective in oxidative stress‐related brain conditions including …
Novel variants in the CLCN4 gene associated with syndromic X-linked intellectual disability
S Li, W Zhang, P Liang, M Zhu, B Zheng… - Frontiers in …, 2023 - frontiersin.org
Objective The dysfunction of the CLCN4 gene can lead to X-linked intellectual disability and
Raynaud–Claes syndrome (MRXSRC), characterized by severe cognitive impairment and …
Raynaud–Claes syndrome (MRXSRC), characterized by severe cognitive impairment and …
Mutations in CLCN6 as a Novel Genetic Cause of Neuronal Ceroid Lipofuscinosis
H He, X Cao, F He, W Zhang, X Wang… - Annals of …, 2024 - Wiley Online Library
Objective The aim of this study was to explore the pathogenesis of CLCN6‐related disease
and to assess whether its Cl−/H+‐exchange activity is crucial for the biological role of ClC‐6 …
and to assess whether its Cl−/H+‐exchange activity is crucial for the biological role of ClC‐6 …
CryoEM structures of the human CLC-2 voltage-gated chloride channel reveal a ball-and-chain gating mechanism
CLC-2 is a voltage-gated chloride channel that contributes to electrical excitability and ion
homeostasis in many different tissues. Among the nine mammalian CLC homologs, CLC-2 …
homeostasis in many different tissues. Among the nine mammalian CLC homologs, CLC-2 …
Prenatal diagnosis of CLCN4‐related neurodevelopmental disorder in fetuses with congenital brain anomalies
Z Lam, E Wall, G Ryan, R Barber, MD Kilby… - Prenatal …, 2023 - Wiley Online Library
We report two male fetuses born to a healthy unrelated couple, with agenesis of the corpus
callosum identified on detailed 20‐week ultrasound scans and confirmed by in‐utero MRI …
callosum identified on detailed 20‐week ultrasound scans and confirmed by in‐utero MRI …
Structural basis of pH-dependent activation in a CLC transporter
CLCs are dimeric membrane chloride channels and anion/proton exchangers regulating
processes such as muscle contraction and endo-lysosome acidification. Their activity is …
processes such as muscle contraction and endo-lysosome acidification. Their activity is …