Publications by authors named "Luca Rampoldi"

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Early renal response to long-term salt loading: mitochondrial dysfunction, ER stress, and uromodulin accumulation in the kidney medulla.
Humaira Parveen, Philipp Boder, William Mullen, Delyth Graham, Tom Van Agtmael, Luca Rampoldi

Am J Physiol Renal Physiol· July 2025

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A novel mouse model recapitulates the effects of rs2254524 variant in the lanosterol synthase gene on salt sensitivity and organ damage.
Sipontina Faienza, Lorena Citterio, Elisabetta Messaggio, Laura Zagato, Chiara Lanzani, Luca Rampoldi

J Hypertens· January 2025

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

EMBO Mol Med· December 2023

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

Dis Model Mech· June 2023

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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.
Francesco Consolato, Maurizio De Fusco, Céline Schaeffer, Federico Pieruzzi, Francesco Scolari, Luca Rampoldi

Mol Genet Metab Rep· December 2022

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Autosomal Dominant Tubulointerstitial Kidney Disease: An Emerging Cause of Genetic CKD.
Laura Econimo, Celine Schaeffer, Letizia Zeni, Roberta Cortinovis, Federico Alberici, Luca Rampoldi

Kidney Int Rep· November 2022

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An intermediate-effect size variant in confers risk for chronic kidney disease.
Eric Olinger, Céline Schaeffer, Kendrah Kidd, Elhussein A E Elhassan, Yurong Cheng, Luca Rampoldi

Proc Natl Acad Sci U S A· August 2022

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Genome-wide studies reveal factors associated with circulating uromodulin and its relationships to complex diseases.
Yong Li, Yurong Cheng, Francesco Consolato, Guglielmo Schiano, Michael R Chong, Luca Rampoldi

JCI Insight· May 2022

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Mechanistic interactions of uromodulin with the thick ascending limb: perspectives in physiology and hypertension.
Philipp Boder, Sheon Mary, Patrick B Mark, James Leiper, Anna F Dominiczak, Luca Rampoldi

J Hypertens· August 2021

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Uromodulin: Roles in Health and Disease.
Céline Schaeffer, Olivier Devuyst, Luca Rampoldi

Annu Rev Physiol· February 2021

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An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.
Martina Živná, Kendrah Kidd, Mohamad Zaidan, Petr Vyleťal, Veronika Barešová, Luca Rampoldi

Kidney Int· December 2020

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Cryo-EM structure of native human uromodulin, a zona pellucida module polymer.
Alena Stsiapanava, Chenrui Xu, Martina Brunati, Sara Zamora-Caballero, Céline Schaeffer, Luca Rampoldi

EMBO J· December 2020

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Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease.
Claudia Izzi, Chiara Dordoni, Laura Econimo, Elisa Delbarba, Francesca Romana Grati, Luca Rampoldi

Kidney Int Rep· December 2020

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Chemically based transmissible ER stress protocols are unsuitable to study cell-to-cell UPR transmission.
Yohan Bignon, Virginie Poindessous, Luca Rampoldi, Violette Haldys, Nicolas Pallet

Biochem J· October 2020

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Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1.
Eric Olinger, Patrick Hofmann, Kendrah Kidd, Inès Dufour, Hendrica Belge, Luca Rampoldi

Kidney Int· September 2020

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Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to Mutations.
Kendrah Kidd, Petr Vylet'al, Céline Schaeffer, Eric Olinger, Martina Živná, Luca Rampoldi

Kidney Int Rep· September 2020

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The Interaction of the Tumor Suppressor FAM46C with p62 and FNDC3 Proteins Integrates Protein and Secretory Homeostasis.
Chiara Fucci, Massimo Resnati, Elena Riva, Tommaso Perini, Elena Ruggieri, Luca Rampoldi

Cell Rep· September 2020

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Peptidomic Analysis of Urine from Youths with Early Type 1 Diabetes Reveals Novel Bioactivity of Uromodulin Peptides .
Julie A D Van, Sergi Clotet-Freixas, Joyce Zhou, Ihor Batruch, Chunxiang Sun, Luca Rampoldi

Mol Cell Proteomics· March 2020

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Regulation of IRE1 RNase activity by the Ribonuclease inhibitor 1 (RNH1).
Quentin Tavernier, Evangeline Bennana, Virginie Poindessous, Celine Schaeffer, Luca Rampoldi

Cell Cycle· September 2019

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Autosomal dominant tubulointerstitial kidney disease.
Olivier Devuyst, Eric Olinger, Stefanie Weber, Kai-Uwe Eckardt, Stanislav Kmoch, Luca Rampoldi

Nat Rev Dis Primers· September 2019

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Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein.
Céline Schaeffer, Claudia Izzi, Andrea Vettori, Elena Pasqualetto, Davide Cittaro, Luca Rampoldi

Sci Rep· August 2019

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Hepsin-mediated Processing of Uromodulin is Crucial for Salt-sensitivity and Thick Ascending Limb Homeostasis.
Eric Olinger, Jennifer Lake, Susan Sheehan, Guglielmo Schiano, Tomoaki Takata, Luca Rampoldi

Sci Rep· August 2019

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Linear Viscoelastic Properties of Selected Polysaccharide Gums as Function of Concentration, pH, and Temperature.
Laura Fagioli, Lucia Pavoni, Serena Logrippo, Caroline Pelucchini, Luca Rampoldi

J Food Sci· January 2019

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Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.
Sneh Lata, Maddalena Marasa, Yifu Li, David A Fasel, Emily Groopman, Luca Rampoldi

Ann Intern Med· January 2018

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