mTOR-dependent phosphorylation controls TFEB nuclear export
Napolitano, Gennaro, Esposito, Alessandra, Choi, Heejun, Matarese, Maria, Benedetti, Valerio, Di Malta, Chiara, Monfregola, Jlenia, Medina, Diego Luis, Lippincott-Schwartz, Jennifer, Ballabio, Andrea
Published in Nature communications (17.08.2018)
Published in Nature communications (17.08.2018)
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Transcriptional activation of RagD GTPase controls mTORC1 and promotes cancer growth
Di Malta, Chiara, Siciliano, Diletta, Calcagni, Alessia, Monfregola, Jlenia, Punzi, Simona, Pastore, Nunzia, Eastes, Andrea N., Davis, Oliver, De Cegli, Rossella, Zampelli, Angela, Di Giovannantonio, Luca G., Nusco, Edoardo, Platt, Nick, Guida, Alessandro, Ogmundsdottir, Margret Helga, Lanfrancone, Luisa, Perera, Rushika M., Zoncu, Roberto, Pelicci, Pier Giuseppe, Settembre, Carmine, Ballabio, Andrea
Published in Science (American Association for the Advancement of Science) (16.06.2017)
Published in Science (American Association for the Advancement of Science) (16.06.2017)
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Altered heparan sulfate metabolism during development triggers dopamine-dependent autistic-behaviours in models of lysosomal storage disorders
De Risi, Maria, Tufano, Michele, Alvino, Filomena Grazia, Ferraro, Maria Grazia, Torromino, Giulia, Gigante, Ylenia, Monfregola, Jlenia, Marrocco, Elena, Pulcrano, Salvatore, Tunisi, Lea, Lubrano, Claudia, Papy-Garcia, Dulce, Tuchman, Yaakov, Salleo, Alberto, Santoro, Francesca, Bellenchi, Gian Carlo, Cristino, Luigia, Ballabio, Andrea, Fraldi, Alessandro, De Leonibus, Elvira
Published in Nature communications (09.06.2021)
Published in Nature communications (09.06.2021)
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mTORC1 hyperactivation arrests bone growth in lysosomal storage disorders by suppressing autophagy
Bartolomeo, Rosa, Cinque, Laura, De Leonibus, Chiara, Forrester, Alison, Salzano, Anna Chiara, Monfregola, Jlenia, De Gennaro, Emanuela, Nusco, Edoardo, Azario, Isabella, Lanzara, Carmela, Serafini, Marta, Levine, Beth, Ballabio, Andrea, Settembre, Carmine
Published in The Journal of clinical investigation (01.10.2017)
Published in The Journal of clinical investigation (01.10.2017)
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Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation
Calcagni’, Alessia, Staiano, Leopoldo, Zampelli, Nicolina, Minopoli, Nadia, Herz, Niculin J., Di Tullio, Giuseppe, Huynh, Tuong, Monfregola, Jlenia, Esposito, Alessandra, Cirillo, Carmine, Bajic, Aleksandar, Zahabiyon, Mahla, Curnock, Rachel, Polishchuk, Elena, Parkitny, Luke, Medina, Diego Luis, Pastore, Nunzia, Cullen, Peter J., Parenti, Giancarlo, De Matteis, Maria Antonietta, Grumati, Paolo, Ballabio, Andrea
Published in Nature communications (03.07.2023)
Published in Nature communications (03.07.2023)
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TFEB drives mTORC1 hyperactivation and kidney disease in Tuberous Sclerosis Complex
Alesi, Nicola, Khabibullin, Damir, Rosenthal, Dean M., Akl, Elie W., Cory, Pieter M., Alchoueiry, Michel, Salem, Samer, Daou, Melissa, Gibbons, William F., Chen, Jennifer A., Zhang, Long, Filippakis, Harilaos, Graciotti, Laura, Miceli, Caterina, Monfregola, Jlenia, Vilardo, Claudia, Morroni, Manrico, Di Malta, Chiara, Napolitano, Gennaro, Ballabio, Andrea, Henske, Elizabeth P.
Published in Nature communications (09.01.2024)
Published in Nature communications (09.01.2024)
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Journal Article
Vesicular trafficking through cortical actin during exocytosis is regulated by the Rab27a effector JFC1/Slp1 and the RhoA-GTPase-activating protein Gem-interacting protein
Johnson, Jennifer L, Monfregola, Jlenia, Napolitano, Gennaro, Kiosses, William B, Catz, Sergio D
Published in Molecular biology of the cell (15.05.2012)
Published in Molecular biology of the cell (15.05.2012)
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Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype
Soldati, Chiara, Lopez‐Fabuel, Irene, Wanderlingh, Luca G, Garcia‐Macia, Marina, Monfregola, Jlenia, Esposito, Alessandra, Napolitano, Gennaro, Guevara‐Ferrer, Marta, Scotto Rosato, Anna, Krogsaeter, Einar K, Paquet, Dominik, Grimm, Christian M, Montefusco, Sandro, Braulke, Thomas, Storch, Stephan, Mole, Sara E, De Matteis, Maria A, Ballabio, Andrea, Sampaio, Julio L, McKay, Tristan, Johannes, Ludger, Bolaños, Juan P, Medina, Diego L
Published in EMBO molecular medicine (07.10.2021)
Published in EMBO molecular medicine (07.10.2021)
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RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome
Sambri, Irene, Ferniani, Marco, Campostrini, Giulia, Testa, Marialuisa, Meraviglia, Viviana, de Araujo, Mariana E. G., Dokládal, Ladislav, Vilardo, Claudia, Monfregola, Jlenia, Zampelli, Nicolina, Vecchio Blanco, Francesca Del, Torella, Annalaura, Ruosi, Carolina, Fecarotta, Simona, Parenti, Giancarlo, Staiano, Leopoldo, Bellin, Milena, Huber, Lukas A., De Virgilio, Claudio, Trepiccione, Francesco, Nigro, Vincenzo, Ballabio, Andrea
Published in Nature communications (15.05.2023)
Published in Nature communications (15.05.2023)
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Impairment of chaperone‐mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis
Napolitano, Gennaro, Johnson, Jennifer L, He, Jing, Rocca, Celine J, Monfregola, Jlenia, Pestonjamasp, Kersi, Cherqui, Stephanie, Catz, Sergio D
Published in EMBO molecular medicine (01.02.2015)
Published in EMBO molecular medicine (01.02.2015)
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Upregulation of the Rab27a-Dependent Trafficking and Secretory Mechanisms Improves Lysosomal Transport, Alleviates Endoplasmic Reticulum Stress, and Reduces Lysosome Overload in Cystinosis
Johnson, Jennifer L., Napolitano, Gennaro, Monfregola, Jlenia, Rocca, Celine J., Cherqui, Stephanie, Catz, Sergio D.
Published in Molecular and Cellular Biology (01.08.2013)
Published in Molecular and Cellular Biology (01.08.2013)
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Differential dysregulation of granule subsets in WASH-deficient neutrophil leukocytes resulting in inflammation
Johnson, Jennifer L., Meneses-Salas, Elsa, Ramadass, Mahalakshmi, Monfregola, Jlenia, Rahman, Farhana, Carvalho Gontijo, Raquel, Kiosses, William B., Pestonjamasp, Kersi, Allen, Dale, Zhang, Jinzhong, Osborne, Douglas G., Zhu, Yanfang Peipei, Wineinger, Nathan, Askari, Kasra, Chen, Danni, Yu, Juan, Henderson, Scott C., Hedrick, Catherine C., Ursini, Matilde Valeria, Grinstein, Sergio, Billadeau, Daniel D., Catz, Sergio D.
Published in Nature communications (21.09.2022)
Published in Nature communications (21.09.2022)
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Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency
Schlotawa, Lars, Tyka, Karolina, Kettwig, Matthias, Ahrens‐Nicklas, Rebecca C, Baud, Matthias, Berulava, Tea, Brunetti‐Pierri, Nicola, Gagne, Alyssa, Herbst, Zackary M, Maguire, Jean A, Monfregola, Jlenia, Pena, Tonatiuh, Radhakrishnan, Karthikeyan, Schröder, Sophie, Waxman, Elisa A, Ballabio, Andrea, Dierks, Thomas, Fischer, André, French, Deborah L, Gelb, Michael H, Gärtner, Jutta
Published in EMBO molecular medicine (08.03.2023)
Published in EMBO molecular medicine (08.03.2023)
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Increased Survival and Reduced Neutrophil Infiltration of the Liver in Rab27a- but Not Munc13-4-Deficient Mice in Lipopolysaccharide-Induced Systemic Inflammation
JOHNSON, Jennifer L, HONG HONG, MONFREGOLA, Jlenia, CATZ, Sergio D
Published in Infection and Immunity (01.09.2011)
Published in Infection and Immunity (01.09.2011)
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Journal Article
MUNC13-4 Protein Regulates the Oxidative Response and Is Essential for Phagosomal Maturation and Bacterial Killing in Neutrophils
Monfregola, Jlenia, Johnson, Jennifer Linda, Meijler, Michael M., Napolitano, Gennaro, Catz, Sergio Daniel
Published in The Journal of biological chemistry (28.12.2012)
Published in The Journal of biological chemistry (28.12.2012)
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Journal Article
Munc13-4 Restricts Motility of Rab27a-expressing Vesicles to Facilitate Lipopolysaccharide-induced Priming of Exocytosis in Neutrophils
Johnson, Jennifer L., Hong, Hong, Monfregola, Jlenia, Kiosses, William B., Catz, Sergio D.
Published in The Journal of biological chemistry (18.02.2011)
Published in The Journal of biological chemistry (18.02.2011)
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MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions
Laperuta, Carmela, Spizzichino, Letizia, D'Adamo, Pio, Monfregola, Jlenia, Maiorino, Antonio, D'Eustacchio, Angela, Ventruto, Valerio, Neri, Giovanni, D'Urso, Michele, Chiurazzi, Pietro, Ursini, Matilde Valeria, Miano, Maria Giuseppina
Published in BMC medical genetics (04.05.2007)
Published in BMC medical genetics (04.05.2007)
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A substrate-specific mTORC1 pathway underlies Birt–Hogg–Dubé syndrome
Napolitano, Gennaro, Di Malta, Chiara, Esposito, Alessandra, de Araujo, Mariana E. G., Pece, Salvatore, Bertalot, Giovanni, Matarese, Maria, Benedetti, Valerio, Zampelli, Angela, Stasyk, Taras, Siciliano, Diletta, Venuta, Alessandro, Cesana, Marcella, Vilardo, Claudia, Nusco, Edoardo, Monfregola, Jlenia, Calcagnì, Alessia, Di Fiore, Pier Paolo, Huber, Lukas A., Ballabio, Andrea
Published in Nature (London) (24.09.2020)
Published in Nature (London) (24.09.2020)
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The structure of human STAT5A and B genes reveals two regions of nearly identical sequence and an alternative tissue specific STAT5B promoter
Ambrosio, Raffaele, Fimiani, Giorgia, Monfregola, Jlenia, Sanzari, Emma, De Felice, Nicola, Salerno, Maria Carolina, Pignata, Claudio, D'Urso, Michele, Ursini, Matilde Valeria
Published in Gene (20.02.2002)
Published in Gene (20.02.2002)
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Journal Article
Structure of the lysosomal mTORC1–TFEB–Rag–Ragulator megacomplex
Cui, Zhicheng, Napolitano, Gennaro, de Araujo, Mariana E. G., Esposito, Alessandra, Monfregola, Jlenia, Huber, Lukas A., Ballabio, Andrea, Hurley, James H.
Published in Nature (London) (16.02.2023)
Published in Nature (London) (16.02.2023)
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