Zobrazeno 1 - 10
of 93
pro vyhledávání: '"Luca Rampoldi"'
Autor:
Guglielmo Schiano, Jennifer Lake, Marta Mariniello, Céline Schaeffer, Marianne Harvent, Luca Rampoldi, Eric Olinger, Olivier Devuyst
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 12, Pp n/a-n/a (2023)
Abstract Missense mutations in the uromodulin (UMOD) gene cause autosomal dominant tubulointerstitial kidney disease (ADTKD), one of the most common monogenic kidney diseases. The unknown impact of the allelic and gene dosage effects and fate of muta
Externí odkaz:
https://doaj.org/article/b1e346c60e1743ae8a8ec771aabc646a
Autor:
Eva Furrow, Luca Rampoldi, Luca Jovine, Jeffrey A. Wesson, Amy E. Treeful, Muthuvel Jayachandran, John C. Lieske, Michael F. Romero, Jody P. Lulich
Publikováno v:
Journal of Clinical and Translational Science, Vol 8, Pp 129-129 (2024)
OBJECTIVES/GOALS: Using a natural canine model of kidney stone disease, we previously identified a pathogenic variant in the uromodulin gene (UMOD) that imparts a dramatic risk for calcium oxalate (CaOx) stones. This study was designed to characteriz
Externí odkaz:
https://doaj.org/article/d4159f2b467b4b5ebdebdd2fe9fe2d49
Autor:
Céline Schaeffer, Maurizio De Fusco, Elena Pasqualetto, Caterina Scolari, Claudia Izzi, Francesco Scolari, Luca Rampoldi
Publikováno v:
Disease Models & Mechanisms, Vol 16, Iss 6 (2023)
Externí odkaz:
https://doaj.org/article/7112b99ee4dc4962a0df5cf6a79baa58
Autor:
Francesco Consolato, Maurizio De Fusco, Céline Schaeffer, Federico Pieruzzi, Francesco Scolari, Maurizio Gallieni, Chiara Lanzani, Sandro Feriozzi, Luca Rampoldi
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100926- (2022)
Anderson-Fabry Disease (FD) is an X-linked lysosomal disorder caused by mutations in GLA, the gene encoding the lysosomal hydrolase α-galactosidase A (α-Gal A), leading to accumulation of glycosphingolipids in the lysosomes. FD is a multisystemic d
Externí odkaz:
https://doaj.org/article/9aaea011d5e846f6b1bd99cfbbe96960
Autor:
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
Publikováno v:
JCI Insight, Vol 7, Iss 10 (2022)
Uromodulin (UMOD) is a major risk gene for monogenic and complex forms of kidney disease. The encoded kidney-specific protein uromodulin is highly abundant in urine and related to chronic kidney disease, hypertension, and pathogen defense. To gain in
Externí odkaz:
https://doaj.org/article/214e08c2c25c48b684ea1de9af2965d4
Autor:
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
Publikováno v:
Kidney International Reports, Vol 5, Iss 9, Pp 1472-1485 (2020)
Introduction: Autosomal dominant tubulo-interstitial kidney disease due to UMOD mutations (ADTKD-UMOD) is a rare condition associated with high variability in the age of end-stage kidney disease (ESKD). The minor allele of rs4293393, located in the p
Externí odkaz:
https://doaj.org/article/8ab1799f3ce441279d9513d18436243b
Autor:
Céline Schaeffer, Claudia Izzi, Andrea Vettori, Elena Pasqualetto, Davide Cittaro, Dejan Lazarevic, Gianluca Caridi, Barbara Gnutti, Cinzia Mazza, Luca Jovine, Francesco Scolari, Luca Rampoldi
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-11 (2019)
Abstract Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a genetically heterogeneous renal disorder leading to progressive loss of renal function. ADTKD-REN is due to rare mutations in renin, all localized in the protein leader peptid
Externí odkaz:
https://doaj.org/article/8dc16d1b7739477cbf9a5b1523e9ce60
Autor:
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
Publikováno v:
Cell Reports, Vol 32, Iss 12, Pp 108162- (2020)
Summary: FAM46C is a non-canonical poly(A) polymerase uniquely mutated in up to 20% of multiple myeloma (MM) patients, implying a tissue-specific tumor suppressor function. Here, we report that FAM46C selectively stabilizes mRNAs encoding endoplasmic
Externí odkaz:
https://doaj.org/article/ae1219dbb80b45f2be9d32a13af4f52b
Autor:
Matteo Trudu, Celine Schaeffer, Michela Riba, Masami Ikehata, Paola Brambilla, Piergiorgio Messa, Filippo Martinelli-Boneschi, Maria Pia Rastaldi, Luca Rampoldi
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-16 (2017)
Abstract Autosomal dominant tubulointerstitial kidney disease (ADTKD) is an inherited disorder that causes progressive kidney damage and renal failure. Mutations in the UMOD gene, encoding uromodulin, lead to ADTKD-UMOD related. Uromodulin is a GPI-a
Externí odkaz:
https://doaj.org/article/dad07a09c2784d458c8b05679b0804dd
Publikováno v:
PLoS ONE, Vol 12, Iss 4, p e0175970 (2017)
Uromodulin is the most abundant urinary protein in physiological conditions. It is exclusively produced by renal epithelial cells lining the thick ascending limb of Henle's loop (TAL) and it plays key roles in kidney function and disease. Mutations i
Externí odkaz:
https://doaj.org/article/d61b7e009e2d4679a312f570c7c339f3