Metabolic acidosis causes a Fanconi-like syndrome with intracellular trafficking defects and proximal tubule dysfunction.
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| Title: | Metabolic acidosis causes a Fanconi-like syndrome with intracellular trafficking defects and proximal tubule dysfunction. |
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| Authors: | Hennings JC; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, 07747 Jena, Germany., Murthy KS; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, 07747 Jena, Germany., Picard N; CNRS, UMR 5305, Laboratory of Tissue Biology and Therapeutic Engineering, University Claude Bernard Lyon, 69007 Lyon, France., Cabrita I; Department II of Internal Medicine and Center for Molecular Medicine Cologne, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany., Böhm D; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, 07747 Jena, Germany., Huebner AK; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, 07747 Jena, Germany., Krause ME; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, 07747 Jena, Germany., Gentsch GJ; Institute of Applied Optics and Biophysics, Friedrich Schiller University, 07743 Jena, Germany., Shah V; Department II of Internal Medicine and Center for Molecular Medicine Cologne, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany., Baraka-Vidot J; Unité 1188 Détroi, INSERM, Plate-forme CYROI, Université de la Réunion, 97400 Saint-Denis, Réunion, France., Khundadze M; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, 07747 Jena, Germany., Schmerler D; Institute for Clinical Chemistry and Laboratory Diagnostics and Integrated Biobank Jena (IBBJ), Jena University Hospital, Friedrich Schiller University, 07747 Jena, Germany., Kiehntopf M; Institute for Clinical Chemistry and Laboratory Diagnostics and Integrated Biobank Jena (IBBJ), Jena University Hospital, Friedrich Schiller University, 07747 Jena, Germany., Stauber T; Institute for Molecular Medicine, MSH Medical School Hamburg, 20457 Hamburg, Germany.; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), 13125 Berlin, Germany., Böckenhauer D; Paediatric Nephrology, University Hospital Leuven and Department of Cellular and Molecular Physiology, KUL, 3000 Leuven, Belgium.; Great Ormond Street Hospital for Children NHS Foundation Trust and Department of Renal Medicine, UCL, London WC1N 3RA, UK., Jentsch TJ; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), 13125 Berlin, Germany.; NeuroCure Cluster of Excellence, Charité University Medicine Berlin, 10117 Berlin, Germany., Bachmann S; Institute of Cell Biology and Neurobiology, Charité University Medicine Berlin, 10117 Berlin, Germany., Franke C; Institute of Applied Optics and Biophysics, Friedrich Schiller University, 07743 Jena, Germany.; Jena Center for Soft Matter, Friedrich Schiller University, 07743 Jena, Germany.; Abbe Center of Photonics, Friedrich Schiller University, 07745 Jena, Germany., Schermer B; Department II of Internal Medicine and Center for Molecular Medicine Cologne, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany., Eladari D; Explorations fonctionnelles et médecine de précision des maladies rénales, Service de Néphrologie, CHU Amiens Picardie, Université de Picardie Jules Verne, 80000 Amiens, France., Chambrey R; Unité 1188 Détroi, INSERM, Plate-forme CYROI, Université de la Réunion, 97400 Saint-Denis, Réunion, France., Hübner CA; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, 07747 Jena, Germany.; Center for Rare Diseases, Jena University Hospital, Friedrich Schiller University, 07747 Jena, Germany. |
| Source: | Science translational medicine [Sci Transl Med] 2026 Feb 11; Vol. 18 (836), pp. eads6299. Date of Electronic Publication: 2026 Feb 11. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1946-6242 |
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| DOI: | 10.1126/scitranslmed.ads6299 |
