Associated Papers
Lysosome pH Dynamics in Physiology and Disease: Molecular Mechanisms and Therapeutic Insights.
Infante-Tadeo S et al.
Acta Physiologica (oxford, England), 2026
Mechanism of phosphoinositide regulation of lysosomal pH via inhibition of CLC-7.
Hilton JK et al.
Biorxiv : the Preprint Server for Biology, 2025
Genetics of Skin, Hair, and Eye Color in Human Pigmentation Disorders.
Manga P et al.
Annals of Human Genetics, 2025
Sorting nexin 10 regulates lysosomal ionic homeostasis via ClC-7 by controlling PI(3,5)P2.
Wu JZ et al.
The Journal of Cell Biology, 2025
Identification of a novel mutation in the CLCN7 gene in pediatric osteopetrosis: case report.
Jiang A et al.
Frontiers in Pediatrics, 2025
Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease.
Polovitskaya MM et al.
The Journal of Biological Chemistry, 2024
Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis.
Lee CL et al.
Molecular Genetics & Genomic Medicine, 2024
Impaired Autophagic Clearance with a Gain-of-Function Variant of the Lysosomal Cl-/H+ Exchanger ClC-7.
Bose S et al.
Biomolecules, 2023
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
Biophysical Aspects of Neurodegenerative and Neurodevelopmental Disorders Involving Endo-/Lysosomal CLC Cl-/H+ Antiporters.
Coppola MA et al.
Life (basel, Switzerland), 2023
The chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG4 and VAC14 mutants.
Cao X et al.
Plos Genetics, 2023
A gain-of-function TPC2 variant R210C increases affinity to PI(3,5)P2 and causes lysosome acidification and hypopigmentation.
Wang Q et al.
Nature Communications, 2023
Vesicular CLC chloride/proton exchangers in health and diseases.
Picollo A
Frontiers in Pharmacology, 2023
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.
Montano C et al.
Journal of Inherited Metabolic Disease, 2022
Autosomal dominant osteopetrosis type II resulting from a de novo mutation in the CLCN7 gene: A case report.
Song XL et al.
World Journal of Clinical Cases, 2022
Tonic inhibition of the chloride/proton antiporter ClC-7 by PI(3,5)P2 is crucial for lysosomal pH maintenance.
Leray X et al.
Elife, 2022
The Role of the Lysosomal Cl-/H+ Antiporter ClC-7 in Osteopetrosis and Neurodegeneration.
Zifarelli G
Cells, 2022
Chloroquine increases osteoclast activity in vitro but does not improve the osteopetrotic bone phenotype of ADO2 mice.
Alam I et al.
Bone, 2021
Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants.
Di Zanni E et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2021
Neurodegeneration Upon Dysfunction of Endosomal/Lysosomal CLC Chloride Transporters.
Bose S et al.
Frontiers in Cell and Developmental Biology, 2021
Inherited disorders of lysosomal membrane transporters.
Huizing M et al.
Biochimica Et Biophysica Acta. Biomembranes, 2020
Identification and Characterization of a Novel CLCN7 Variant Associated with Osteopetrosis.
Bug DS et al.
Genes, 2020
Molecular insights into the human CLC-7/Ostm1 transporter.
Zhang S et al.
Science Advances, 2020
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
Nicoli ER et al.
American Journal of Human Genetics, 2019