Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response. by Céline Schaeffer, Stefania Merella, Elena Pasqualetto, Dejan Lazarevic, Luca Rampoldi

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Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease by Céline Schaeffer, Maurizio De Fusco, Elena Pasqualetto, Caterina Scolari, Claudia Izzi, Francesco Scolari, Luca Rampoldi

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Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease by Guglielmo Schiano, Jennifer Lake, Marta Mariniello, Céline Schaeffer, Marianne Harvent, Luca Rampoldi, Eric Olinger, Olivier Devuyst

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α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response by Francesco Consolato, Maurizio De Fusco, Céline Schaeffer, Federico Pieruzzi, Francesco Scolari, Maurizio Gallieni, Chiara Lanzani, Sandro Feriozzi, Luca Rampoldi

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Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations by Matteo Trudu, Celine Schaeffer, Michela Riba, Masami Ikehata, Paola Brambilla, Piergiorgio Messa, Filippo Martinelli-Boneschi, Maria Pia Rastaldi, Luca Rampoldi

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431 Defective uromodulin polymerization and peptide excretion in a natural canine model of kidney stones by Eva Furrow, Luca Rampoldi, Luca Jovine, Jeffrey A. Wesson, Amy E. Treeful, Muthuvel Jayachandran, John C. Lieske, Michael F. Romero, Jody P. Lulich

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Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein by Céline Schaeffer, Claudia Izzi, Andrea Vettori, Elena Pasqualetto, Davide Cittaro, Dejan Lazarevic, Gianluca Caridi, Barbara Gnutti, Cinzia Mazza, Luca Jovine, Francesco Scolari, Luca Rampoldi

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The Interaction of the Tumor Suppressor FAM46C with p62 and FNDC3 Proteins Integrates Protein and Secretory Homeostasis by Chiara Fucci, Massimo Resnati, Elena Riva, Tommaso Perini, Elena Ruggieri, Ugo Orfanelli, Francesca Paradiso, Floriana Cremasco, Andrea Raimondi, Elena Pasqualetto, Mario Nuvolone, Luca Rampoldi, Simone Cenci, Enrico Milan

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Association of estimated glomerular filtration rate and urinary uromodulin concentrations with rare variants identified by UMOD gene region sequencing. by Anna Köttgen, Qiong Yang, Lawrence C Shimmin, Adrienne Tin, Céline Schaeffer, Josef Coresh, Xuan Liu, Luca Rampoldi, Shih-Jen Hwang, Eric Boerwinkle, James E Hixson, W H Linda Kao, Caroline S Fox

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The serine protease hepsin mediates urinary secretion and polymerisation of Zona Pellucida domain protein uromodulin by Martina Brunati, Simone Perucca, Ling Han, Angela Cattaneo, Francesco Consolato, Annapaola Andolfo, Céline Schaeffer, Eric Olinger, Jianhao Peng, Sara Santambrogio, Romain Perrier, Shuo Li, Marcel Bokhove, Angela Bachi, Edith Hummler, Olivier Devuyst, Qingyu Wu, Luca Jovine, Luca Rampoldi

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Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients by Elena Bonora, Claudio Graziano, Fiorella Minopoli, Elena Bacchelli, Pamela Magini, Chiara Diquigiovanni, Silvia Lomartire, Francesca Bianco, Manuela Vargiolu, Piero Parchi, Elena Marasco, Vilma Mantovani, Luca Rampoldi, Matteo Trudu, Antonia Parmeggiani, Agatino Battaglia, Luigi Mazzone, Giada Tortora, IMGSAC, Elena Maestrini, Marco Seri, Giovanni Romeo

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Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients by Elena Bonora, Claudio Graziano, Fiorella Minopoli, Elena Bacchelli, Pamela Magini, Chiara Diquigiovanni, Silvia Lomartire, Francesca Bianco, Manuela Vargiolu, Piero Parchi, Elena Marasco, Vilma Mantovani, Luca Rampoldi, Matteo Trudu, Antonia Parmeggiani, Agatino Battaglia, Luigi Mazzone, Giada Tortora, IMGSAC, Elena Maestrini, Marco Seri, Giovanni Romeo

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Genome-wide studies reveal factors associated with circulating uromodulin and its relationships to complex diseases by Yong Li, Yurong Cheng, Francesco Consolato, Guglielmo Schiano, Michael R. Chong, Maik Pietzner, Ngoc Quynh H. Nguyen, Nora Scherer, Mary L. Biggs, Marcus E. Kleber, Stefan Haug, Burulça Göçmen, Marie Pigeyre, Peggy Sekula, Inga Steinbrenner, Pascal Schlosser, Christina B. Joseph, Jennifer A. Brody, Morgan E. Grams, Caroline Hayward, Ulla T. Schultheiss, Bernhard K. Krämer, Florian Kronenberg, Annette Peters, Jochen Seissler, Dominik Steubl, Cornelia Then, Matthias Wuttke, Winfried März, Kai-Uwe Eckardt, Christian Gieger, Eric Boerwinkle, Bruce M. Psaty, Josef Coresh, Peter J. Oefner, Guillaume Pare, Claudia Langenberg, Jürgen E. Scherberich, Bing Yu, Shreeram Akilesh, Olivier Devuyst, Luca Rampoldi, Anna Köttgen

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Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations by Kendrah Kidd, Petr Vylet’al, Céline Schaeffer, Eric Olinger, Martina Živná, Kateřina Hodaňová, Victoria Robins, Emily Johnson, Abbigail Taylor, Lauren Martin, Claudia Izzi, Sofia C. Jorge, Joaquim Calado, Rosa J. Torres, Karl Lhotta, Dominik Steubl, Daniel P. Gale, Christine Gast, Eva Gombos, Hannah C. Ainsworth, Ying Maggie Chen, Jorge Reis Almeida, Cintia Fernandes de Souza, Catarina Silveira, Rita Raposeiro, Nelson Weller, Peter J. Conlon, Susan L. Murray, Katherine A. Benson, Gianpiero L. Cavalleri, Miroslav Votruba, Alena Vrbacká, Antonio Amoroso, Daniela Gianchino, Gianluca Caridi, Gian Marco Ghiggeri, Jasmin Divers, Francesco Scolari, Olivier Devuyst, Luca Rampoldi, Stanislav Kmoch, Anthony J. Bleyer

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