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1. Corrigendum: Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function

Author

Bedin, Mathilda, Boyer, Olivia, Servais, Aude, Li, Yong, Villoing-Gaude, Laure, Tete, Marie-Josephe, Cambier, Alexandra, Hogan, Julien, Baudouin, Veronique, Krid, Saoussen, Bensman, Albert, Lammens, Florie, Louillet, Ferielle, Ranchin, Bruno, Vigneau, Cecile, Bouteau, Iseline, Isnard-Bagnis, Corinne, Mache, Christoph J., Schafer, Tobias, Pape, Lars, Godel, Markus, Huber, Tobias B., Benz, Marcus, Klaus, Gunter, Hansen, Matthias, Latta, Kay, Gribouval, Olivier, Moriniere, Vincent, Tournant, Carole, Grohmann, Maik, Kuhn, Elisa, Wagner, Timo, Bole-Feysot, Christine, Jabot-Hanin, Fabienne, Nitschke, Patrick, Ahluwalia, Tarunveer S., Kottgen, Anna, Andersen, Christian Brix Folsted, Bergmann, Carsten, Antignac, Corinne, and Simons, Matias

Subjects
Health care industry
Abstract

Original citation: J Clin Invest. 2020;130(1):335-344. https://doi.org/10.1172/JCI129937. Citation for this corrigendum: J Clin Invest. 2022;132(11):e161852. https://doi.org/10.1172/JCI161852. The authors recently became aware that the standard errors for the diabetes group were [...]

Published
2022
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2. Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function

Author

Bedin, Mathilda, primary, Boyer, Olivia, additional, Servais, Aude, additional, Li, Yong, additional, Villoing-Gaudé, Laure, additional, Tête, Marie-Josephe, additional, Cambier, Alexandra, additional, Hogan, Julien, additional, Baudouin, Veronique, additional, Krid, Saoussen, additional, Bensman, Albert, additional, Lammens, Florie, additional, Louillet, Ferielle, additional, Ranchin, Bruno, additional, Vigneau, Cecile, additional, Bouteau, Iseline, additional, Isnard-Bagnis, Corinne, additional, Mache, Christoph J., additional, Schäfer, Tobias, additional, Pape, Lars, additional, Gödel, Markus, additional, Huber, Tobias B., additional, Benz, Marcus, additional, Klaus, Günter, additional, Hansen, Matthias, additional, Latta, Kay, additional, Gribouval, Olivier, additional, Morinière, Vincent, additional, Tournant, Carole, additional, Grohmann, Maik, additional, Kuhn, Elisa, additional, Wagner, Timo, additional, Bole-Feysot, Christine, additional, Jabot-Hanin, Fabienne, additional, Nitschké, Patrick, additional, Ahluwalia, Tarunveer S., additional, Köttgen, Anna, additional, Andersen, Christian Brix Folsted, additional, Bergmann, Carsten, additional, Antignac, Corinne, additional, and Simons, Matias, additional

Published
2022
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3. Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function

Author

Bedin, Mathilda, primary, Boyer, Olivia, additional, Servais, Aude, additional, Li, Yong, additional, Villoing-Gaudé, Laure, additional, Tête, Marie-Josephe, additional, Cambier, Alexandra, additional, Hogan, Julien, additional, Baudouin, Veronique, additional, Krid, Saoussen, additional, Bensman, Albert, additional, Lammens, Florie, additional, Louillet, Ferielle, additional, Ranchin, Bruno, additional, Vigneau, Cecile, additional, Bouteau, Iseline, additional, Isnard-Bagnis, Corinne, additional, Mache, Christoph J., additional, Schäfer, Tobias, additional, Pape, Lars, additional, Gödel, Markus, additional, Huber, Tobias B., additional, Benz, Marcus, additional, Klaus, Günter, additional, Hansen, Matthias, additional, Latta, Kay, additional, Gribouval, Olivier, additional, Morinière, Vincent, additional, Tournant, Carole, additional, Grohmann, Maik, additional, Kuhn, Elisa, additional, Wagner, Timo, additional, Bole-Feysot, Christine, additional, Jabot-Hanin, Fabienne, additional, Nitschké, Patrick, additional, Ahluwalia, Tarunveer S., additional, Köttgen, Anna, additional, Andersen, Christian Brix Folsted, additional, Bergmann, Carsten, additional, Antignac, Corinne, additional, and Simons, Matias, additional

Published
2019
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4. A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes

Author

Rinschen, Markus M., primary, Gödel, Markus, additional, Grahammer, Florian, additional, Zschiedrich, Stefan, additional, Helmstädter, Martin, additional, Kretz, Oliver, additional, Zarei, Mostafa, additional, Braun, Daniela A., additional, Dittrich, Sebastian, additional, Pahmeyer, Caroline, additional, Schroder, Patricia, additional, Teetzen, Carolin, additional, Gee, HeonYung, additional, Daouk, Ghaleb, additional, Pohl, Martin, additional, Kuhn, Elisa, additional, Schermer, Bernhard, additional, Küttner, Victoria, additional, Boerries, Melanie, additional, Busch, Hauke, additional, Schiffer, Mario, additional, Bergmann, Carsten, additional, Krüger, Marcus, additional, Hildebrandt, Friedhelm, additional, Dengjel, Joern, additional, Benzing, Thomas, additional, and Huber, Tobias B., additional

Published
2018
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5. A Multi-layered Quantitative In VivoExpression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes

Author

Rinschen, Markus M., Gödel, Markus, Grahammer, Florian, Zschiedrich, Stefan, Helmstädter, Martin, Kretz, Oliver, Zarei, Mostafa, Braun, Daniela A., Dittrich, Sebastian, Pahmeyer, Caroline, Schroder, Patricia, Teetzen, Carolin, Gee, HeonYung, Daouk, Ghaleb, Pohl, Martin, Kuhn, Elisa, Schermer, Bernhard, Küttner, Victoria, Boerries, Melanie, Busch, Hauke, Schiffer, Mario, Bergmann, Carsten, Krüger, Marcus, Hildebrandt, Friedhelm, Dengjel, Joern, Benzing, Thomas, and Huber, Tobias B.

Abstract

Damage to and loss of glomerular podocytes has been identified as the culprit lesion in progressive kidney diseases. Here, we combine mass spectrometry-based proteomics with mRNA sequencing, bioinformatics, and hypothesis-driven studies to provide a comprehensive and quantitative map of mammalian podocytes that identifies unanticipated signaling pathways. Comparison of the in vivodatasets with proteomics data from podocyte cell cultures showed a limited value of available cell culture models. Moreover, in vivostable isotope labeling by amino acids uncovered surprisingly rapid synthesis of mitochondrial proteins under steady-state conditions that was perturbed under autophagy-deficient, disease-susceptible conditions. Integration of acquired omics dimensions suggested FARP1 as a candidate essential for podocyte function, which could be substantiated by genetic analysis in humans and knockdown experiments in zebrafish. This work exemplifies how the integration of multi-omics datasets can identify a framework of cell-type-specific features relevant for organ health and disease.

Published
2018
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6. Leading Transformative Change Collectively

Author

Kuenkel, Petra, Kuhn, Elisabeth, Stucker, Dominic, and Williamson, Douglas F.

Subjects
bic Book Industry Communication::K Economics, finance, business & management::KC Economics::KCM Development economics & emerging economies, bic Book Industry Communication::K Economics, finance, business & management::KJ Business & management::KJM Management & management techniques::KJMB Management: leadership & motivation, bic Book Industry Communication::K Economics, finance, business & management::KJ Business & management::KJG Business ethics & social responsibility, bic Book Industry Communication::K Economics, finance, business & management::KJ Business & management::KJU Organizational theory & behaviour
Abstract

This book directly helps decision-makers and change agents in companies, NGOs, and government bodies become more proficient in transformative, collaborative change in realizing the SDGs. This practitioner’s handbook translates a systemic – and enlivening – approach to collaboration into day-to-day work and management. It connects the emerging practice of multi-stakeholder collaboration to easily understandable models, tools, and cases. Numerous, concrete cases not only bring this methodology to life, but also help identify the challenges and avoid common mistakes. The book can be used as a guide to apply a breakthrough approach for navigating the complexity of stakeholder systems, designing results-oriented process architectures, ensuring the success of cross-sector change initiatives, and enlivening collaboration ecosystems for SDG implementation. It is designed to enhance high quality stakeholder engagement, dialogue, and collaboration. A must-read, the book sets a new standard for the collaborative implementation of Agenda 2030 and is a foundational guide for leading sustainability transformations collectively to achieve climate change mitigation, social integration, equitable value chains, and broad sustainability challenges.

Published
2021
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8. Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

Author

Bedin M, Boyer O, Servais A, Li Y, Villoing-Gaudé L, Tête MJ, Cambier A, Hogan J, Baudouin V, Krid S, Bensman A, Lammens F, Louillet F, Ranchin B, Vigneau C, Bouteau I, Isnard-Bagnis C, Mache CJ, Schäfer T, Pape L, Gödel M, Huber TB, Benz M, Klaus G, Hansen M, Latta K, Gribouval O, Morinière V, Tournant C, Grohmann M, Kuhn E, Wagner T, Bole-Feysot C, Jabot-Hanin F, Nitschké P, Ahluwalia TS, Köttgen A, Andersen CBF, Bergmann C, Antignac C, and Simons M

Subjects
Female, Humans, Male, Albuminuria epidemiology, Albuminuria genetics, Albuminuria metabolism, Albuminuria pathology, Anemia, Megaloblastic epidemiology, Anemia, Megaloblastic genetics, Anemia, Megaloblastic metabolism, Anemia, Megaloblastic pathology, Kidney Tubules, Proximal metabolism, Kidney Tubules, Proximal pathology, Malabsorption Syndromes epidemiology, Malabsorption Syndromes genetics, Malabsorption Syndromes metabolism, Malabsorption Syndromes pathology, Mutation, Proteinuria epidemiology, Proteinuria genetics, Proteinuria metabolism, Proteinuria pathology, Receptors, Cell Surface genetics, Receptors, Cell Surface metabolism, Vitamin B 12 Deficiency epidemiology, Vitamin B 12 Deficiency genetics, Vitamin B 12 Deficiency metabolism, Vitamin B 12 Deficiency pathology
Abstract

BACKGROUNDProteinuria is considered an unfavorable clinical condition that accelerates renal and cardiovascular disease. However, it is not clear whether all forms of proteinuria are damaging. Mutations in CUBN cause Imerslund-Gräsbeck syndrome (IGS), which is characterized by intestinal malabsorption of vitamin B12 and in some cases proteinuria. CUBN encodes for cubilin, an intestinal and proximal tubular uptake receptor containing 27 CUB domains for ligand binding.METHODSWe used next-generation sequencing for renal disease genes to genotype cohorts of patients with suspected hereditary renal disease and chronic proteinuria. CUBN variants were analyzed using bioinformatics, structural modeling, and epidemiological methods.RESULTSWe identified 39 patients, in whom biallelic pathogenic variants in the CUBN gene were associated with chronic isolated proteinuria and early childhood onset. Since the proteinuria in these patients had a high proportion of albuminuria, glomerular diseases such as steroid-resistant nephrotic syndrome or Alport syndrome were often the primary clinical diagnosis, motivating renal biopsies and the use of proteinuria-lowering treatments. However, renal function was normal in all cases. By contrast, we did not found any biallelic CUBN variants in proteinuric patients with reduced renal function or focal segmental glomerulosclerosis. Unlike the more N-terminal IGS mutations, 37 of the 41 proteinuria-associated CUBN variants led to modifications or truncations after the vitamin B12-binding domain. Finally, we show that 4 C-terminal CUBN variants are associated with albuminuria and slightly increased GFR in meta-analyses of large population-based cohorts.CONCLUSIONCollectively, our data suggest an important role for the C-terminal half of cubilin in renal albumin reabsorption. Albuminuria due to reduced cubilin function could be an unexpectedly common benign condition in humans that may not require any proteinuria-lowering treatment or renal biopsy.FUNDINGATIP-Avenir program, Fondation Bettencourt-Schueller (Liliane Bettencourt Chair of Developmental Biology), Agence Nationale de la Recherche (ANR) Investissements d'avenir program (ANR-10-IAHU-01) and NEPHROFLY (ANR-14-ACHN-0013, to MS), Steno Collaborative Grant 2018 (NNF18OC0052457, to TSA and MS), Heisenberg Professorship of the German Research Foundation (KO 3598/5-1, to AK), Deutsche Forschungsgemeinschaft (DFG) Collaborative Research Centre (SFB) KIDGEM 1140 (project 246781735, to CB), and Federal Ministry of Education and Research (BMB) (01GM1515C, to CB).

Published
2020
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