Author
Telethon Institute Of Genetics And MedicineORCID 0000-0002-6053-1060Unclaimed ORCID profile · follow to get notified of new preprints
6 papers
Recent·Most cited
Štěpánka Vlachová, Lucia Iovine, Valentina Marano…·Mirko Cortese
This study identifies a non-canonical role for the LC3C-ATG4D axis in supporting coronavirus replication organelle formation, independent of canonical autophagy.
Giuseppina Divisato, Stefano Tozza, Emanuela Cascone…·Silvia Parisi
This study establishes an in vitro model of SORD deficiency using iPSCs and identifies mitochondrial dysfunction and oxidative stress as key mechanisms, suggesting AR inhibition as a therapeutic target for CMT2/SORD and diabetic neuropathies.
Rafaela Grecco-Machado, Satomi Nadanaka, Yuko Naito‐Matsui…·B. Frank Eames
This study identifies ARSI as a novel lysosomal chondroitin sulfatase that regulates endochondral ossification by desulfating chondroitin sulfate.
Giuliana Giamundo, Daniela Intartaglia, Eugenio Del Prete…·Iván Conte
The paper identifies Ezrin's role in regulating TSC complex activation at endosomes via EGFR-AKT signaling, showing its impact on mTORC1 and retinal function.
Leandro R. Soria, Sonam Gurung, Giulia De Sabbata…·Nicola Brunetti‐Pierri
This study shows that activating autophagy via Beclin-1 improves biochemical and clinical outcomes in two types of urea cycle disorders.