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J

Jlenia Monfregola

telethon institute of genetics and medicine
H指数:23
被引数:2,431

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A TBK1/ULK1 signalling axis couples lysosomal stress to TFEB activation

TBK1/ULK1信号轴将溶酶体应激与TFEB激活相偶联

Nature
IF48.5
2026-09-300
PRE
Alessandra Esposito; Ibrahim Bayramoglu; Chiara Varriale; Maria Pia Cavaliere; Maria Elsa Brunetti; Rossella Agostinis; Rachel M. Jansen; Dan A. Tudorica; Yongjia Duan; Martina Spacci; Alessia Calcagnì; Carolin D. Strobl; Verena Passerini; Fabrizio Andreone; Jlenia Monfregola; Julia Richter; Francesca Sacco; Wolfram Klapper; Oliver Weigert; Andrea Ballabio; Roberto Zoncu; James H. Hurley; Joern Dengjel; Gennaro Napolitano
Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking
The American Journal of Human Genetics
IF0
2026-02-040
PRE
Pilar Chacon-Millan; Antonella Delicato; Arif Mahmood; Alfonsina Tirozzi; Jlenia Monfregola; Karine Duroure; Malo Serafini; François Kroll; Océane El-hage; Somaya Salah; Osama M. Atawneh; Tahir Atik; Enise Avcı Durmusalioglu; Esra Isik; Naif A.M. Almontashiri; Brahim Tabarki; Moien Kanaan; Grace Rabie; Annalaura Torella; Carmine Spampanato
TFEB drives mTORC1 hyperactivation and kidney disease in Tuberous Sclerosis Complex
NATURE COMMUNICATIONS
IF15.7
2024-01-0910
OAAI
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.
Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation
NATURE COMMUNICATIONS
IF15.7
2023-07-0312
OAAI
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
RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome

RagD自动激活突变损害肾小管病和心肌病综合征中的MiT/TFE活性

NATURE COMMUNICATIONS
IF15.7
2023-05-157
OAAI
Sambri, Irene; Ferniani, Marco; Campostrini, Giulia; Testa, Marialuisa; Meraviglia, Viviana; de Araujo, Mariana E. G.; Dokladal, Ladislav; Vilardo, Claudia; Monfregola, Jlenia; Zampelli, Nicolina; Blanco, Francesca Del Vecchio; Torella, Annalaura; Ruosi, Carolina; Fecarotta, Simona; Parenti, Giancarlo; Staiano, Leopoldo; Bellin, Milena; Huber, Lukas A.; De Virgilio, Claudio; Trepiccione, Francesco; Nigro, Vincenzo; Ballabio, Andrea
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency
EMBO MOLECULAR MEDICINE
IF8.3
2023-02-156
OAAI
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.; Monfregula, Jlenia; Pena, Tonatiuh; Radhakrishnan, Karthikeyan; Schroeder, Sophie; Waxman, Elisa A.; Ballabio, Andrea; Dierks, Thomas; Fischer, Andre; French, Deborah L.; Gelb, Michael H.; Gaertner, Jutta
Differential dysregulation of granule subsets in WASH-deficient neutrophil leukocytes resulting in inflammation
NATURE COMMUNICATIONS
IF15.7
2022-09-216
OAAI
Johnson, Jennifer L.; Meneses-Salas, Elsa; Ramadass, Mahalakshmi; Monfregola, Jlenia; Rahman, Farhana; Gontijo, Raquel Carvalho; 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.
Current methods to analyze lysosome morphology, positioning, motility and function
TRAFFIC
IF2.5
2022-04-2464
OAAI
Barral, Duarte C.; Staiano, Leopoldo; Guimas Almeida, Claudia; Cutler, Dan F.; Eden, Emily R.; Futter, Clare E.; Galione, Antony; Marques, Andre R. A.; Medina, Diego Luis; Napolitano, Gennaro; Settembre, Carmine; Vieira, Otilia V.; Aerts, Johannes M. F. G.; Atakpa-Adaji, Peace; Bruno, Gemma; Capuozzo, Antonella; De Leonibus, Elvira; Di Malta, Chiara; Escrevente, Cristina; Esposito, Alessandra; Grumati, Paolo; Hall, Michael J.; Teodoro, Rita O.; Lopes, Susana S.; Luzio, J. Paul; Monfregola, Jlenia; Montefusco, Sandro; Platt, Frances M.; Polishchuck, Roman; De Risi, Maria; Sambri, Irene; Soldati, Chiara; Seabra, Miguel C.
Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype

他莫昔芬的再利用改善了CLN3和CLN7疾病表型

EMBO MOLECULAR MEDICINE
IF8.3
2021-08-1932
OAAI
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; Bolanos, Juan P.; Medina, Diego L.
Altered heparan sulfate metabolism during development triggers dopamine-dependent autistic-behaviours in models of lysosomal storage disorders
NATURE COMMUNICATIONS
IF15.7
2021-06-0926
OAAI
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

研究方向

暂未获取到该数据
A
Andrea Ballabio
H 指数:120论文数:595被引数:7.5万
G
Gennaro Napolitano
H 指数:28论文数:57被引数:1.2万
S
Sergio Catz
H 指数:35论文数:103被引数:7,005
J
Jennifer L. Johnson
H 指数:31论文数:114被引数:3,268
D
Diego L. Medina
H 指数:41论文数:121被引数:2.3万
A
Alessandra Esposito
H 指数:11论文数:19被引数:1,445
M
Matilde Valeria Ursini
H 指数:36论文数:146被引数:9,422
M
Maria Antonietta De Matteis
H 指数:58论文数:225被引数:2.2万
L
Leopoldo Staiano
H 指数:14论文数:26被引数:3,586
E
Elena Polishchuk
H 指数:28论文数:74被引数:3,285