Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease
Schiano, Guglielmo, Lake, Jennifer, Mariniello, Marta, Schaeffer, Céline, Harvent, Marianne, Rampoldi, Luca, Olinger, Eric, Devuyst, Olivier
Published in EMBO molecular medicine (07.12.2023)
Published in EMBO molecular medicine (07.12.2023)
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Journal Article
Multisystem involvement, defective lysosomes and impaired autophagy in a novel rat model of nephropathic cystinosis
Krohn, Patrick, Rega, Laura Rita, Harvent, Marianne, Festa, Beatrice Paola, Taranta, Anna, Luciani, Alessandro, Dewulf, Joseph, Cremonesi, Alessio, Camassei, Francesca Diomedi, Hanson, James V M, Gerth-Kahlert, Christina, Emma, Francesco, Berquez, Marine, Devuyst, Olivier
Published in Human molecular genetics (07.07.2022)
Published in Human molecular genetics (07.07.2022)
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Journal Article
Allelic and Gene Dosage Effects Involving Uromodulin Aggregates Drive Autosomal Dominant Tubulointerstitial Kidney Disease
Schiano, Guglielmo, Lake, Jennifer, Mariniello, Marta, Schaeffer, Celine, Harvent, Marianne, Rampoldi, Luca, Olinger, Eric Gregory, Devuyst, Olivier
Published in bioRxiv (02.11.2022)
Published in bioRxiv (02.11.2022)
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