Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response

por Schaeffer, Céline, Merella, Stefania, Pasqualetto, Elena, Lazarevic, Dejan, Rampoldi, Luca
Publicado 2017

Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease

por Schaeffer, Céline, De Fusco, Maurizio, Pasqualetto, Elena, Scolari, Caterina, Izzi, Claudia, Scolari, Francesco, Rampoldi, Luca
Publicado 2023

Autosomal Dominant Tubulointerstitial Kidney Disease: An Emerging Cause of Genetic CKD

por Econimo, Laura, Schaeffer, Celine, Zeni, Letizia, Cortinovis, Roberta, Alberici, Federico, Rampoldi, Luca, Scolari, Francesco, Izzi, Claudia
Publicado 2022

α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response

por Consolato, Francesco, De Fusco, Maurizio, Schaeffer, Céline, Pieruzzi, Federico, Scolari, Francesco, Gallieni, Maurizio, Lanzani, Chiara, Feriozzi, Sandro, Rampoldi, Luca
Publicado 2022

Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations

por Trudu, Matteo, Schaeffer, Celine, Riba, Michela, Ikehata, Masami, Brambilla, Paola, Messa, Piergiorgio, Martinelli-Boneschi, Filippo, Rastaldi, Maria Pia, Rampoldi, Luca
Publicado 2017

Hepsin-mediated Processing of Uromodulin is Crucial for Salt-sensitivity and Thick Ascending Limb Homeostasis

por Olinger, Eric, Lake, Jennifer, Sheehan, Susan, Schiano, Guglielmo, Takata, Tomoaki, Tokonami, Natsuko, Debaix, Huguette, Consolato, Francesco, Rampoldi, Luca, Korstanje, Ron, Devuyst, Olivier
Publicado 2019

Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease

por Izzi, Claudia, Dordoni, Chiara, Econimo, Laura, Delbarba, Elisa, Grati, Francesca Romana, Martin, Eva, Mazza, Cinzia, Savoldi, Gianfranco, Rampoldi, Luca, Alberici, Federico, Scolari, Francesco
Publicado 2020

Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein

por Schaeffer, Céline, Izzi, Claudia, Vettori, Andrea, Pasqualetto, Elena, Cittaro, Davide, Lazarevic, Dejan, Caridi, Gianluca, Gnutti, Barbara, Mazza, Cinzia, Jovine, Luca, Scolari, Francesco, Rampoldi, Luca
Publicado 2019

Cryo‐EM structure of native human uromodulin, a zona pellucida module polymer

por Stsiapanava, Alena, Xu, Chenrui, Brunati, Martina, Zamora‐Caballero, Sara, Schaeffer, Céline, Bokhove, Marcel, Han, Ling, Hebert, Hans, Carroni, Marta, Yasumasu, Shigeki, Rampoldi, Luca, Wu, Bin, Jovine, Luca
Publicado 2020

Association of Estimated Glomerular Filtration Rate and Urinary Uromodulin Concentrations with Rare Variants Identified by UMOD Gene Region Sequencing

por Köttgen, Anna, Yang, Qiong, Shimmin, Lawrence C., Tin, Adrienne, Schaeffer, Céline, Coresh, Josef, Liu, Xuan, Rampoldi, Luca, Hwang, Shih-Jen, Boerwinkle, Eric, Hixson, James E., Kao, W. H. Linda, Fox, Caroline S.
Publicado 2012

Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression

por Trudu, Matteo, Janas, Sylvie, Lanzani, Chiara, Debaix, Huguette, Schaeffer, Céline, Ikehata, Masami, Citterio, Lorena, Demaretz, Sylvie, Trevisani, Francesco, Ristagno, Giuseppe, Glaudemans, Bob, Laghmani, Kamel, Dell’Antonio, Giacomo, Loffing, Johannes, Rastaldi, Maria P., Manunta, Paolo, Devuyst, Olivier, Rampoldi, Luca
Publicado 2013

The serine protease hepsin mediates urinary secretion and polymerisation of Zona Pellucida domain protein uromodulin

por Brunati, Martina, Perucca, Simone, Han, Ling, Cattaneo, Angela, Consolato, Francesco, Andolfo, Annapaola, Schaeffer, Céline, Olinger, Eric, Peng, Jianhao, Santambrogio, Sara, Perrier, Romain, Li, Shuo, Bokhove, Marcel, Bachi, Angela, Hummler, Edith, Devuyst, Olivier, Wu, Qingyu, Jovine, Luca, Rampoldi, Luca
Publicado 2015

Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients

por Bonora, Elena, Graziano, Claudio, Minopoli, Fiorella, Bacchelli, Elena, Magini, Pamela, Diquigiovanni, Chiara, Lomartire, Silvia, Bianco, Francesca, Vargiolu, Manuela, Parchi, Piero, Marasco, Elena, Mantovani, Vilma, Rampoldi, Luca, Trudu, Matteo, Parmeggiani, Antonia, Battaglia, Agatino, Mazzone, Luigi, Tortora, Giada, Maestrini, Elena, Seri, Marco, Romeo, Giovanni
Publicado 2014

Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients

por Bonora, Elena, Graziano, Claudio, Minopoli, Fiorella, Bacchelli, Elena, Magini, Pamela, Diquigiovanni, Chiara, Lomartire, Silvia, Bianco, Francesca, Vargiolu, Manuela, Parchi, Piero, Marasco, Elena, Mantovani, Vilma, Rampoldi, Luca, Trudu, Matteo, Parmeggiani, Antonia, Battaglia, Agatino, Mazzone, Luigi, Tortora, Giada, Maestrini, Elena, Seri, Marco, Romeo, Giovanni
Publicado 2014

An intermediate-effect size variant in UMOD confers risk for chronic kidney disease

por Olinger, Eric, Schaeffer, Céline, Kidd, Kendrah, Elhassan, Elhussein A. E., Cheng, Yurong, Dufour, Inès, Schiano, Guglielmo, Mabillard, Holly, Pasqualetto, Elena, Hofmann, Patrick, Fuster, Daniel G., Kistler, Andreas D., Wilson, Ian J., Kmoch, Stanislav, Raymond, Laure, Robert, Thomas, Eckardt, Kai-Uwe, Bleyer, Anthony J., Köttgen, Anna, Conlon, Peter J., Wiesener, Michael, Sayer, John A., Rampoldi, Luca, Devuyst, Olivier
Publicado 2022

Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations

por Kidd, Kendrah, Vylet’al, Petr, Schaeffer, Céline, Olinger, Eric, Živná, Martina, Hodaňová, Kateřina, Robins, Victoria, Johnson, Emily, Taylor, Abbigail, Martin, Lauren, Izzi, Claudia, Jorge, Sofia C., Calado, Joaquim, Torres, Rosa J., Lhotta, Karl, Steubl, Dominik, Gale, Daniel P., Gast, Christine, Gombos, Eva, Ainsworth, Hannah C., Chen, Ying Maggie, Almeida, Jorge Reis, de Souza, Cintia Fernandes, Silveira, Catarina, Raposeiro, Rita, Weller, Nelson, Conlon, Peter J., Murray, Susan L., Benson, Katherine A., Cavalleri, Gianpiero L., Votruba, Miroslav, Vrbacká, Alena, Amoroso, Antonio, Gianchino, Daniela, Caridi, Gianluca, Ghiggeri, Gian Marco, Divers, Jasmin, Scolari, Francesco, Devuyst, Olivier, Rampoldi, Luca, Kmoch, Stanislav, Bleyer, Anthony J.
Publicado 2020

Genome-wide studies reveal factors associated with circulating uromodulin and its relationships to complex diseases

por Li, Yong, Cheng, Yurong, Consolato, Francesco, Schiano, Guglielmo, Chong, Michael R., Pietzner, Maik, Nguyen, Ngoc Quynh H., Scherer, Nora, Biggs, Mary L., Kleber, Marcus E., Haug, Stefan, Göçmen, Burulça, Pigeyre, Marie, Sekula, Peggy, Steinbrenner, Inga, Schlosser, Pascal, Joseph, Christina B., Brody, Jennifer A., Grams, Morgan E., Hayward, Caroline, Schultheiss, Ulla T., Krämer, Bernhard K., Kronenberg, Florian, Peters, Annette, Seissler, Jochen, Steubl, Dominik, Then, Cornelia, Wuttke, Matthias, März, Winfried, Eckardt, Kai-Uwe, Gieger, Christian, Boerwinkle, Eric, Psaty, Bruce M., Coresh, Josef, Oefner, Peter J., Pare, Guillaume, Langenberg, Claudia, Scherberich, Jürgen E., Yu, Bing, Akilesh, Shreeram, Devuyst, Olivier, Rampoldi, Luca, Köttgen, Anna
Publicado 2022