ArticleEMBO molecular medicine2012
A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V-ATPase a4 subunit in the proximal tubule.
Article in EMBO molecular medicine, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 77 citations in OpenAlex.
- Heterogeneity in lysosomal dynamics and metabolic functions along the kidney proximal tubule.Nature communications · 2026Article
- Identification of novel pathogenic mutations inRenal failure · 2025Article
- Epac2 Deficiency Compromises Adaptation to Dietary Acidification by Decreasing H+ Transport in the Renal Nephron.Function (Oxford, England) · 2025Article
- Protein handling in kidney tubules.Nature reviews. Nephrology · 2025Review
- Article
- Clinical characteristics and genetic profile of children with WDR72-associated distal renal tubular acidosis: a nationwide experience.Pediatric nephrology (Berlin, Germany) · 2025Article
- Role of KThe American journal of pathology · 2025Article
- Characterization of a novel variant in KCNJ16, encoding KPhysiological reports · 2024Article
- Pendrin: linking acid base to blood pressure.Pflugers Archiv : European journal of physiology · 2024Review
- The pathophysiology of distal renal tubular acidosis.Nature reviews. Nephrology · 2023Review
- The (pro)renin receptor (ATP6ap2) facilitates receptor-mediated endocytosis and lysosomal function in the renal proximal tubule.Pflugers Archiv : European journal of physiology · 2021Article
- Loss of vacuolar-type H+-ATPase induces caspase-independent necrosis-like death of hair cells in zebrafish neuromasts.Disease models & mechanisms · 2021Article
- Phenotypic variability in distal acidification defects associated with WDR72 mutations.Pediatric nephrology (Berlin, Germany) · 2021Article
- The HAmerican journal of physiology. Cell physiology · 2021Review
- Neurodegeneration Upon Dysfunction of Endosomal/Lysosomal CLC Chloride Transporters.Frontiers in cell and developmental biology · 2021Review
- The emerging roles of vacuolar-type ATPase-dependent Lysosomal acidification in neurodegenerative diseases.Translational neurodegeneration · 2020Review
- Roles of vacuolar HInternational journal of clinical and experimental pathology · 2020Article
- Early Hearing Loss upon Disruption of Slc4a10 in C57BL/6 Mice.Journal of the Association for Research in Otolaryngology : JARO · 2019Article
- Pathophysiology, diagnosis and treatment of inherited distal renal tubular acidosis.Journal of nephrology · 2018Review
- Targeted deletion of the Ncoa7 gene results in incomplete distal renal tubular acidosis in mice.American journal of physiology. Renal physiology · 2018Article
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Authors and funding
10 authors at 6 institutions in 3 countries.
Funding
Abstract
The V-ATPase is a multisubunit complex that transports protons across membranes. Mutations of its B1 or a4 subunit are associated with distal renal tubular acidosis and deafness. In the kidney, the a4 subunit is expressed in intercalated cells of the distal nephron, where the V-ATPase controls acid/base secretion, and in proximal tubule cells, where its role is less clear. Here, we report that a4 KO mice suffer not only from severe acidosis but also from proximal tubule dysfunction with defective endocytic trafficking, proteinuria, phosphaturia and accumulation of lysosomal material and we provide evidence that these findings may be also relevant in patients. In the inner ear, the a4 subunit co-localized with pendrin at the apical side of epithelial cells lining the endolymphatic sac. As a4 KO mice were profoundly deaf and displayed enlarged endolymphatic fluid compartments mirroring the alterations in pendrin KO mice, we propose that pendrin and the proton pump co-operate in endolymph homeostasis. Thus, our mouse model gives new insights into the divergent functions of the V-ATPase and the pathophysiology of a4-related symptoms.
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