ArticleJournal of the American Society of Nephrology : JASN2009
Disease-causing dysfunctions of barttin in Bartter syndrome type IV.
Article in Journal of the American Society of Nephrology : JASN, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 89 citations in OpenAlex.
- Description of the novel variant c.784delG;p. (Ala262Profs*68) atBiomedical reports · 2026Article
- Mechanism of Gating and Isoform-Specific Inhibition in Renal CLC Chloride Channels.bioRxiv : the preprint server for biology · 2026Article
- Genetic analyses using chromosomal microarray and exome sequencing in fetuses and women with Müllerian duct anomalies.Journal of assisted reproduction and genetics · 2025Article
- ClC-Kb pore mutation disrupts glycosylation and triggers distal tubular remodeling.JCI insight · 2024Article
- Hypokalemia in a young man…think Bartter syndrome type 3.Annals of medicine and surgery (2012) · 2024Article
- Monogenic features of urolithiasis: A comprehensive review.Asian journal of urology · 2024Review
- Functional Characterization ofFrontiers in molecular neuroscience · 2022Article
- Genetics of kidney stone disease.Nature reviews. Urology · 2020Review
- DHHC7-mediated palmitoylation of the accessory protein barttin critically regulates the functions of ClC-K chloride channels.The Journal of biological chemistry · 2020Article
- Hypokalemia and hearing loss in a 3-year-old boy: Answers.Pediatric nephrology (Berlin, Germany) · 2020Article
- Functional Study of Novel Bartter's Syndrome Mutations in ClC-Kb and Rescue by the Accessory Subunit Barttin Toward Personalized Medicine.Frontiers in pharmacology · 2020Article
- Hearing loss and renal syndromes.Pediatric nephrology (Berlin, Germany) · 2018Review
- Activation of renal ClC-K chloride channels depends on an intact N terminus of their accessory subunit barttin.The Journal of biological chemistry · 2018Article
- Transient Antenatal Bartter's Syndrome: A Case Report.Frontiers in pediatrics · 2018Article
- Bartter syndrome: causes, diagnosis, and treatment.International journal of nephrology and renovascular disease · 2018Review
- Barttin Regulates the Subcellular Localization and Posttranslational Modification of Human ClFrontiers in physiology · 2018Article
- Functional severity of CLCNKB mutations correlates with phenotypes in patients with classic Bartter's syndrome.The Journal of physiology · 2017Article
- Reduced Membrane Insertion of CLC-K by V33L Barttin Results in Loss of Hearing, but Leaves Kidney Function Intact.Frontiers in physiology · 2017Article
- Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery.Frontiers in pharmacology · 2016Review
- Carboxyl-terminal Truncations of ClC-Kb Abolish Channel Activation by Barttin Via Modified Common Gating and Trafficking.The Journal of biological chemistry · 2015Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Bartter syndrome type IV is an inherited human condition characterized by severe renal salt wasting and sensorineural deafness. The causal gene, BSND, encodes barttin, an accessory subunit of chloride channels located in the kidney and inner ear. Barttin modulates the stability, cell surface localization, and function of ClC-K channels; distinct mutations cause phenotypes of varying severity. For definition of the molecular basis of this diversity, the functional consequences of six disease-causing mutations (R8L, R8W, G10S, Q32X, G47R, and E88X) on ClC-K channel properties were studied by heterologous expression in renal cell lines, electrophysiology, confocal imaging, and biochemical analysis. Three missense mutations (R8L, R8W, and G10S) eliminated the function of ClC-K/barttin channels but did not prevent the insertion of the channels into the surface membrane. Another mutant that produces a mild renal phenotype (G47R) was capable of performing all functions of wild-type barttin but bound to ClC-K channels less effectively. The nonsense mutation E88X affected epithelial sorting, leading to equal amounts of barttin inserting into the basolateral and apical membranes, contrasting with the preferential apical insertion of wild-type barttin. Last, the nonsense mutation Q32X allowed barttin to associate with ClC-K channels but prevented surface membrane insertion and channel activation. These results demonstrate that Bartter syndrome type IV can be caused by various derangements in the function of barttin, likely contributing to the diversity of observed phenotypes.
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