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Human Gene Therapy|April 12, 2018
High-Throughput Screening Identifies Kinase Inhibitors That Increase Dual Adeno-Associated Viral Vector Transduction In Vitro and in Mouse RetinaAndrea Maddalena, Fabio Dell'Aquila, Pia Giovannelli, et al.Nature|November 24, 2015
FGF signalling regulates bone growth through autophagyLaura Cinque, Alison Forrester, Rosa Bartolomeo, et al.International Journal of Molecular Sciences|December 10, 2021
Drug Repurposing in Rare Diseases: An Integrative Study of Drug Screening and Transcriptomic Analysis in Nephropathic CystinosisFrancesco Bellomo, Ester De Leo, Anna Taranta, et al.Autophagy|December 26, 2025
Proteotoxic stress triggers TFEB- and TFE3-mediated autophagy and lysosomal biogenesis via non-canonical MTORC1 inactivationZhou Zhu, Jing Yang, Sandro Montefusco, et al.Molecular Therapy : the Journal of the American Society of Gene Therapy|February 5, 2022
Fluoxetine ameliorates mucopolysaccharidosis type IIIAAntonella Capuozzo, Sandro Montefusco, Vincenzo Cacace, et al.Kidney International|March 21, 2016
Activation of the transcription factor EB rescues lysosomal abnormalities in cystinotic kidney cellsLaura R Rega, Elena Polishchuk, Sandro Montefusco, et al.Investigative Ophthalmology & Visual Science|September 24, 2010
Molecular and clinical characterization of albinism in a large cohort of Italian patientsAnnagiusi Gargiulo, Francesco Testa, Settimio Rossi, et al.Journal of the American Society of Nephrology : JASN|April 1, 2025
TRPML-1 Dysfunction and Renal Tubulopathy in Mucolipidosis Type IVGiuseppina Grieco, Sandro Montefusco, Edoardo Nusco, et al.Journal of the American Society of Nephrology : JASN|December 4, 2024
TRPML-1 Dysfunction and Renal Tubulopathy in Mucolipidosis Type IVGiuseppina Grieco, Sandro Montefusco, Edoardo Nusco, et al.Hepatology (Baltimore, Md.)|December 15, 2015
Identification of p38 MAPK and JNK as new targets for correction of Wilson disease-causing ATP7B mutantsGiancarlo Chesi, Ramanath N Hegde, Simona Iacobacci, et al.Pageof 3