Search Results - Luca Rampoldi

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  1. 1

    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

    Published in PLoS ONE (2017-01-01)
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  2. 2

    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

    Published in Disease Models & Mechanisms (2023-06-01)
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  3. 3

    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

    Published in EMBO Molecular Medicine (2023-10-01)
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  4. 4

    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

    Published in Molecular Genetics and Metabolism Reports (2022-12-01)
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  5. 5

    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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  6. 6

    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

    Published in PLoS ONE (2012-01-01)
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  7. 7

    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

    Published in eLife (2015-12-01)
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  8. 8

    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

    Published in EMBO Molecular Medicine (2014-04-01)
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  9. 9

    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

    Published in EMBO Molecular Medicine (2014-12-01)
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  10. 10

    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

    Published in JCI Insight (2022-05-01)
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