ReviewPflugers Archiv : European journal of physiology2012
ClC-5 mutations associated with Dent's disease: a major role of the dimer interface.
Review in Pflugers Archiv : European journal of physiology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed.
- Folding and Oligomerization of CLC Channels and Transporters.Chemical reviews · 2026Review
- Database ofKidney international reports · 2026Article
- Molecular Mechanisms of CLCN5 Missense Mutations in Dent Disease Type 1: A Comprehensive Computational Analysis and Clinical Correlations in a Chinese Cohort.Journal of cellular and molecular medicine · 2026Article
- Clinical features and genetic analysis of 15 Chinese children with dent disease.Renal failure · 2024Article
- Review
- Structural basis of pH-dependent activation in a CLC transporter.Nature structural & molecular biology · 2024Article
- Case Report: Early acute kidney failure in an 11-year-old boy with Dent disease type 1.Frontiers in pediatrics · 2024Article
- Characterization of pre-mRNA Splicing Defects Caused byBiomedicines · 2023Article
- The Site and Type ofKidney international reports · 2023Article
- Novel Dent disease 1 cellular models reveal biological processes underlying ClC-5 loss-of-function.Human molecular genetics · 2021Article
- Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon.Human genetics · 2021Review
- Dent disease: classification, heterogeneity and diagnosis.World journal of pediatrics : WJP · 2021Review
- Clinical manifestation and genetic findings in three boys with low molecular Weight Proteinuria - three case reports for exploring Dent Disease and Fanconi syndrome.BMC nephrology · 2021Article
- Small molecules restore the function of mutant CLC5 associated with Dent disease.Journal of cellular and molecular medicine · 2021Article
- Review
- Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1.Clinical and experimental nephrology · 2020Article
- A CLC-ec1 mutant reveals global conformational change and suggests a unifying mechanism for the CLC CleLife · 2020Article
- Genetic Analyses in Dent Disease and Characterization of CLCN5 Mutations in Kidney Biopsies.International journal of molecular sciences · 2020Article
- Molecular Simulations of Intact Anion Exchanger 1 Reveal Specific Domain and Lipid Interactions.Biophysical journal · 2019Article
- A Novel CLCN5 Mutation Associated With Focal Segmental Glomerulosclerosis and Podocyte Injury.Kidney international reports · 2018Article
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dent's disease is an X-linked recessive disorder affecting the proximal tubules. Mutations in the 2Cl(-)/H(+) exchanger ClC-5 gene CLCN5 are frequently associated with Dent's disease. Functional characterization of mutations of CLCN5 have helped to elucidate the physiopathology of Dent's disease and provided evidence that several different mechanisms underlie the ClC-5 dysfunction in Dent's disease. Modeling studies indicate that many CLCN5 mutations are located at the interface between the monomers of ClC-5, demonstrating that this protein region plays an important role in Dent's disease. On the basis of functional data, CLCN5 mutations can be divided into three different classes. Class 1 mutations impair processing and folding, and as a result, the ClC-5 mutants are retained within the endoplasmic reticulum and targeted for degradation by quality control mechanisms. Class 2 mutations induce a delay in protein processing and reduce the stability of ClC-5. As a consequence, the cell surface expression and currents of the ClC-5 mutants are lower. Class 3 mutations do not alter the trafficking of ClC-5 to the cell surface and early endosomes but induce altered electrical activity. Here, we discuss the functional consequences of the three classes of CLCN5 mutations on ClC-5 structure and function.
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