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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.
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
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  Data: Metabolic acidosis causes a Fanconi-like syndrome with intracellular trafficking defects and proximal tubule dysfunction.
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  Data: <searchLink fieldCode="AU" term="%22Hennings+JC%22">Hennings JC</searchLink>; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, 07747 Jena, Germany.<br /><searchLink fieldCode="AU" term="%22Murthy+KS%22">Murthy KS</searchLink>; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, 07747 Jena, Germany.<br /><searchLink fieldCode="AU" term="%22Picard+N%22">Picard N</searchLink>; CNRS, UMR 5305, Laboratory of Tissue Biology and Therapeutic Engineering, University Claude Bernard Lyon, 69007 Lyon, France.<br /><searchLink fieldCode="AU" term="%22Cabrita+I%22">Cabrita I</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Böhm+D%22">Böhm D</searchLink>; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, 07747 Jena, Germany.<br /><searchLink fieldCode="AU" term="%22Huebner+AK%22">Huebner AK</searchLink>; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, 07747 Jena, Germany.<br /><searchLink fieldCode="AU" term="%22Krause+ME%22">Krause ME</searchLink>; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, 07747 Jena, Germany.<br /><searchLink fieldCode="AU" term="%22Gentsch+GJ%22">Gentsch GJ</searchLink>; Institute of Applied Optics and Biophysics, Friedrich Schiller University, 07743 Jena, Germany.<br /><searchLink fieldCode="AU" term="%22Shah+V%22">Shah V</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Baraka-Vidot+J%22">Baraka-Vidot J</searchLink>; Unité 1188 Détroi, INSERM, Plate-forme CYROI, Université de la Réunion, 97400 Saint-Denis, Réunion, France.<br /><searchLink fieldCode="AU" term="%22Khundadze+M%22">Khundadze M</searchLink>; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, 07747 Jena, Germany.<br /><searchLink fieldCode="AU" term="%22Schmerler+D%22">Schmerler D</searchLink>; Institute for Clinical Chemistry and Laboratory Diagnostics and Integrated Biobank Jena (IBBJ), Jena University Hospital, Friedrich Schiller University, 07747 Jena, Germany.<br /><searchLink fieldCode="AU" term="%22Kiehntopf+M%22">Kiehntopf M</searchLink>; Institute for Clinical Chemistry and Laboratory Diagnostics and Integrated Biobank Jena (IBBJ), Jena University Hospital, Friedrich Schiller University, 07747 Jena, Germany.<br /><searchLink fieldCode="AU" term="%22Stauber+T%22">Stauber T</searchLink>; Institute for Molecular Medicine, MSH Medical School Hamburg, 20457 Hamburg, Germany.; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), 13125 Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Böckenhauer+D%22">Böckenhauer D</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Jentsch+TJ%22">Jentsch TJ</searchLink>; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), 13125 Berlin, Germany.; NeuroCure Cluster of Excellence, Charité University Medicine Berlin, 10117 Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Bachmann+S%22">Bachmann S</searchLink>; Institute of Cell Biology and Neurobiology, Charité University Medicine Berlin, 10117 Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Franke+C%22">Franke C</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Schermer+B%22">Schermer B</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Eladari+D%22">Eladari D</searchLink>; Explorations fonctionnelles et médecine de précision des maladies rénales, Service de Néphrologie, CHU Amiens Picardie, Université de Picardie Jules Verne, 80000 Amiens, France.<br /><searchLink fieldCode="AU" term="%22Chambrey+R%22">Chambrey R</searchLink>; Unité 1188 Détroi, INSERM, Plate-forme CYROI, Université de la Réunion, 97400 Saint-Denis, Réunion, France.<br /><searchLink fieldCode="AU" term="%22Hübner+CA%22">Hübner CA</searchLink>; 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.
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