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个人简介
Dr. Ballabio's impact on human genetics research began with his discoveries of X-linked disease genes. His contributions have spanned an enormous range of human diseases and biological processes, from X-inactivation (XIST), axonal targeting (Kallmann syndrome), and melanosome biogenesis (ocular albinism) to mitochondrial biogenesis (hereditary spastic paraplegia), post-translational protein modification (multiple sulfatase deficiency), and the role of autophagy in lysosomal storage diseases to name a few. He led a large international project, EurExpress, to build an expression atlas for all murine genes. The Ballabio lab has identified many genes and pathogenetic mechanisms that have led to a number of successful therapeutic tests in animal models, which are now moving to preclinical trials. The lab's discovery of the SUMF1 gene, for example, had a direct impact on the production of active sulfatases for enzyme replacement therapy.
研究兴趣
论文共 581 篇作者统计合作学者相似作者
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Francesco Trepiccione,Irene Sambri,Barbara Ruggiero, Francesco Emma,Andrea Ballabio, Giulia Florio, Ines Vanderheyden,Anna Iervolino, François Jouret
Kidney and Blood Pressure Researchno. 1 (2024): 637-645
Neuza Domingues,Alessia Calcagni', Joana Pires, Sofia Roque Freire,Niculin Joachim Herz,Tuong Huynh, Katarzyna Wieciorek,Maria João Moreno,Tiago Fleming Outeiro,Henrique Girão,Ira Milosevic,Andrea Ballabio,Nuno Raimundo
bioRxiv : the preprint server for biology (2024)
Nicola Alesi,Damir Khabibullin, Dean M. Rosenthal,Elie W. Akl, Pieter M. Cory,Michel Alchoueiry, Samer Salem, Melissa Daou, William F. Gibbons, Jennifer A. Chen,Long Zhang,Harilaos Filippakis,Laura Graciotti,Caterina Miceli,Jlenia Monfregola,Claudia Vilardo,Manrico Morroni,Chiara Di Malta,Gennaro Napolitano,Andrea Ballabio,Elizabeth P. Henske
Nature Communicationsno. 1 (2024): 1-10
Jaebeom Kim,Young Suk Yu, Yehwa Choi, Do Hui Lee, Soobin Han, Junhee Kwon,Taichi Noda,Masahito Ikawa,Dongha Kim,Hyunkyung Kim,Andrea Ballabio,Keun Il Kim,Sung Hee Baek
Nature communicationsno. 1 (2024): 8334-8334
Marcella Cesana,Gennaro Tufano,Francesco Panariello,Nicolina Zampelli,Chiara Soldati,Margherita Mutarelli,Sandro Montefusco, Giuseppina Grieco, Lucia Vittoria Sepe, Barbara Rossi,Edoardo Nusco,Giada Rossignoli, Giorgia Panebianco,Fabrizio Merciai,Emanuela Salviati,Eduardo Maria Sommella,Pietro Campiglia,Graziano Martello,Davide Cacchiarelli,Diego Luis Medina,Andrea Ballabio
CELL DEATH AND DIFFERENTIATION (2024)
Acta Pharmaceutica Sinica Bno. 1 (2024): 190-206
Matthias Muenchhalfen, Richard Goerg,Michael Haberl, Jens Loeber, Jakob Willenbrink, Laura Schwarzt, Charlotte Hoeltermann,Christian Ickes, Leonard Hammermann, Jan Kus, Bjoern Chapuy,Andrea Ballabio, Sybille D. Reichardt, Alexander Fluegel,Niklas Engels,Juergen Wienands
NATURE COMMUNICATIONSno. 1 (2024)
Shihomi Maeda,Shinsuke Sakai,Yoshitsugu Takabatake,Takeshi Yamamoto,Satoshi Minami,Jun Nakamura,Tomoko Namba-Hamano,Atsushi Takahashi,Jun Matsuda,Hiroaki Yonishi,Sho Matsui,Atsuhiro Imai,Ryuya Edahiro,Hitomi Yamamoto-Imoto,Isao Matsui,Seiji Takashima,Ryoichi Imamura,Norio Nonomura,Motoko Yanagita, Yukinori Okada,Andrea Ballabio,Shuhei Nakamura,Tamotsu Yoshimori,Yoshitaka Isaka
Journal of the American Society of Nephrology JASN (2024)
Irene Sambri,Marco Ferniani,Giulia Campostrini,Marialuisa Testa,Viviana Meraviglia,Mariana E. G. de Araujo,Ladislav Dokládal,Claudia Vilardo,Jlenia Monfregola,Nicolina Zampelli,Francesca Del Vecchio Blanco,Annalaura Torella,Carolina Ruosi,Simona Fecarotta,Giancarlo Parenti,Leopoldo Staiano,Milena Bellin,Lukas A. Huber,Claudio De Virgilio,Francesco Trepiccione,Vincenzo Nigro,Andrea Ballabio
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作者统计
#Papers: 579
#Citation: 56469
H-Index: 112
G-Index: 228
Sociability: 9
Diversity: 0
Activity: 2
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