Methylmalonyl acidemia: from mitochondrial metabolism to defective mitophagy and disease

por Luciani, Alessandro, Devuyst, Olivier
Publicado 2020

Mitochondrial Distress in Methylmalonic Acidemia: Novel Pathogenic Insights and Therapeutic Perspectives

por Keller, Svenja Aline, Luciani, Alessandro
Publicado 2022

Mitochondria, mitophagy, and metabolic disease: towards assembling the puzzle

por Chen, Zhiyong, Berquez, Marine, Luciani, Alessandro
Publicado 2020

Defective Cystinosin, Aberrant Autophagy−Endolysosome Pathways, and Storage Disease: Towards Assembling the Puzzle

por Rega, Laura Rita, De Leo, Ester, Nieri, Daniela, Luciani, Alessandro
Publicado 2022

Butyrate Attenuates Lipopolysaccharide-Induced Inflammation in Intestinal Cells and Crohn's Mucosa through Modulation of Antioxidant Defense Machinery

por Russo, Ilaria, Luciani, Alessandro, De Cicco, Paola, Troncone, Edoardo, Ciacci, Carolina
Publicado 2012

Mitochondrial disease, mitophagy, and cellular distress in methylmalonic acidemia

por Luciani, Alessandro, Denley, Matthew C. S., Govers, Larissa P., Sorrentino, Vincenzo, Froese, D. Sean
Publicado 2021

The phosphoinositide 3-kinase inhibitor alpelisib restores actin organization and improves proximal tubule dysfunction in vitro and in a mouse model of Lowe syndrome and Dent disea...

por Berquez, Marine, Gadsby, Jonathan R., Festa, Beatrice Paola, Butler, Richard, Jackson, Stephen P., Berno, Valeria, Luciani, Alessandro, Devuyst, Olivier, Gallop, Jennifer L.
Publicado 2020

Lysosomal cystine export regulates mTORC1 signaling to guide kidney epithelial cell fate specialization

por Berquez, Marine, Chen, Zhiyong, Festa, Beatrice Paola, Krohn, Patrick, Keller, Svenja Aline, Parolo, Silvia, Korzinkin, Mikhail, Gaponova, Anna, Laczko, Endre, Domenici, Enrico, Devuyst, Olivier, Luciani, Alessandro
Publicado 2023

Impaired autophagy bridges lysosomal storage disease and epithelial dysfunction in the kidney

por Festa, Beatrice Paola, Chen, Zhiyong, Berquez, Marine, Debaix, Huguette, Tokonami, Natsuko, Prange, Jenny Ann, Hoek, Glenn van de, Alessio, Cremonesi, Raimondi, Andrea, Nevo, Nathalie, Giles, Rachel H., Devuyst, Olivier, Luciani, Alessandro
Publicado 2018

Multisystem involvement, defective lysosomes and impaired autophagy in a novel rat model of nephropathic cystinosis

por 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
Publicado 2022

Genistein antagonizes gliadin-induced CFTR malfunction in models of celiac disease

por Esposito, Speranza, Villella, Valeria Rachela, Ferrari, Eleonora, Monzani, Romina, Tosco, Antonella, Rossin, Federica, D’Eletto, Manuela, Castaldo, Alice, Luciani, Alessandro, Silano, Marco, Bona, Gianni, Marseglia, Gian Luigi, Romani, Luigina, Piacentini, Mauro, Raia, Valeria, Kroemer, Guido, Maiuri, Luigi
Publicado 2019

OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease

por Festa, Beatrice Paola, Berquez, Marine, Gassama, Alkaly, Amrein, Irmgard, Ismail, Hesham M, Samardzija, Marijana, Staiano, Leopoldo, Luciani, Alessandro, Grimm, Christian, Nussbaum, Robert L, De Matteis, Maria Antonietta, Dorchies, Olivier M, Scapozza, Leonardo, Wolfer, David Paul, Devuyst, Olivier
Publicado 2019

Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency

por Luciani, Alessandro, Schumann, Anke, Berquez, Marine, Chen, Zhiyong, Nieri, Daniela, Failli, Mario, Debaix, Huguette, Festa, Beatrice Paola, Tokonami, Natsuko, Raimondi, Andrea, Cremonesi, Alessio, Carrella, Diego, Forny, Patrick, Kölker, Stefan, Diomedi Camassei, Francesca, Diaz, Francisca, Moraes, Carlos T., Di Bernardo, Diego, Baumgartner, Matthias R., Devuyst, Olivier
Publicado 2020

Author Correction: Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency

por Luciani, Alessandro, Schumann, Anke, Berquez, Marine, Chen, Zhiyong, Nieri, Daniela, Failli, Mario, Debaix, Huguette, Festa, Beatrice Paola, Tokonami, Natsuko, Raimondi, Andrea, Cremonesi, Alessio, Carrella, Diego, Forny, Patrick, Kölker, Stefan, Camassei, Francesca Diomedi, Diaz, Francisca, Moraes, Carlos T., Di Bernardo, Diego, Baumgartner, Matthias R., Devuyst, Olivier
Publicado 2020

A pathogenic role for cystic fibrosis transmembrane conductance regulator in celiac disease

por Villella, Valeria R, Venerando, Andrea, Cozza, Giorgio, Esposito, Speranza, Ferrari, Eleonora, Monzani, Romina, Spinella, Mara C, Oikonomou, Vasilis, Renga, Giorgia, Tosco, Antonella, Rossin, Federica, Guido, Stefano, Silano, Marco, Garaci, Enrico, Chao, Yu‐Kai, Grimm, Christian, Luciani, Alessandro, Romani, Luigina, Piacentini, Mauro, Raia, Valeria, Kroemer, Guido, Maiuri, Luigi
Publicado 2018

Autophagosome-lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL

por De Leo, Maria Giovanna, Staiano, Leopoldo, Vicinanza, Mariella, Luciani, Alessandro, Carissimo, Annamaria, Mutarelli, Margherita, Di Campli, Antonella, Polishchuk, Elena, Di Tullio, Giuseppe, Morra, Valentina, Levtchenko, Elena, Oltrabella, Francesca, Starborg, Tobias, Santoro, Michele, Di Bernardo, Diego, Devuyst, Olivier, Lowe, Martin, Medina, Diego L., Ballabio, Andrea, De Matteis, Maria Antonietta
Publicado 2016

Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes

por Teumer, Alexander, Tin, Adrienne, Sorice, Rossella, Gorski, Mathias, Yeo, Nan Cher, Chu, Audrey Y., Li, Man, Li, Yong, Mijatovic, Vladan, Ko, Yi-An, Taliun, Daniel, Luciani, Alessandro, Chen, Ming-Huei, Yang, Qiong, Foster, Meredith C., Olden, Matthias, Hiraki, Linda T., Tayo, Bamidele O., Fuchsberger, Christian, Dieffenbach, Aida Karina, Shuldiner, Alan R., Smith, Albert V., Zappa, Allison M., Lupo, Antonio, Kollerits, Barbara, Ponte, Belen, Stengel, Bénédicte, Krämer, Bernhard K., Paulweber, Bernhard, Mitchell, Braxton D., Hayward, Caroline, Helmer, Catherine, Meisinger, Christa, Gieger, Christian, Shaffer, Christian M., Müller, Christian, Langenberg, Claudia, Ackermann, Daniel, Siscovick, David, Boerwinkle, Eric, Kronenberg, Florian, Ehret, Georg B., Homuth, Georg, Waeber, Gerard, Navis, Gerjan, Gambaro, Giovanni, Malerba, Giovanni, Eiriksdottir, Gudny, Li, Guo, Wichmann, H. Erich, Grallert, Harald, Wallaschofski, Henri, Völzke, Henry, Brenner, Herrmann, Kramer, Holly, Leach, I. Mateo, Rudan, Igor, Hillege, Hans L., Beckmann, Jacques S., Lambert, Jean Charles, Luan, Jian'an, Zhao, Jing Hua, Chalmers, John, Coresh, Josef, Denny, Joshua C., Butterbach, Katja, Launer, Lenore J., Ferrucci, Luigi, Kedenko, Lyudmyla, Haun, Margot, Metzger, Marie, Woodward, Mark, Hoffman, Matthew J., Nauck, Matthias, Waldenberger, Melanie, Pruijm, Menno, Bochud, Murielle, Rheinberger, Myriam, Verweij, Niek, Wareham, Nicholas J., Endlich, Nicole, Soranzo, Nicole, Polasek, Ozren, van der Harst, Pim, Pramstaller, Peter Paul, Vollenweider, Peter, Wild, Philipp S., Gansevoort, Ron T., Rettig, Rainer, Biffar, Reiner, Carroll, Robert J., Katz, Ronit, Loos, Ruth J.F., Hwang, Shih-Jen, Coassin, Stefan, Bergmann, Sven, Rosas, Sylvia E., Stracke, Sylvia, Harris, Tamara B., Corre, Tanguy, Zeller, Tanja, Illig, Thomas, Aspelund, Thor, Tanaka, Toshiko, Lendeckel, Uwe, Völker, Uwe, Gudnason, Vilmundur, Chouraki, Vincent, Koenig, Wolfgang, Kutalik, Zoltan, O'Connell, Jeffrey R., Parsa, Afshin, Heid, Iris M., Paterson, Andrew D., de Boer, Ian H., Devuyst, Olivier, Lazar, Jozef, Endlich, Karlhans, Susztak, Katalin, Tremblay, Johanne, Hamet, Pavel, Jacob, Howard J., Böger, Carsten A., Fox, Caroline S., Pattaro, Cristian, Köttgen, Anna
Publicado 2016