Pubblicazioni

Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes

2023 - HUMAN MOLECULAR GENETICS ONLINE

Flex, Elisabetta; Albadri, Shahad; Radio, Francesca Clementina; Cecchetti, Serena; Lauri, Antonella; Priolo, Manuela; Kissopoulos, Marta; Carpentieri, Giovanna; Fasano, Giulia; Venditti, Martina; Magliocca, Valentina; Bellacchio, Emanuele; Welch, Carrie L.; Colombo, Paolo C.; Kochav, Stephanie M.; Chang, Richard; Barrick, Rebekah; Trivisano, Marina; Micalizzi, Alessia; Borghi, Rossella; Messina, Elena; Mancini, Cecilia; Pizzi, Simone; De Santis, Flavia; Rosello, Marion; Specchio, Nicola; Compagnucci, Claudia; Mcwalter, Kirsty; Chung, Wendy K.; Del Bene, Filippo; Tartaglia, Marco

Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia

2022 - HUMAN MOLECULAR GENETICS ONLINE

Di Rocco, Martina; Galosi, Serena; Lanza, Enrico; Tosato, Federica; Caprini, Davide; Folli, Viola; Friedman, Jennifer; Bocchinfuso, Gianfranco; Martire, Alberto; Di Schiavi, Elia; Leuzzi, Vincenzo; Martinelli, Simone

Frataxin deficiency in Friedreich's ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival

2020 - HUMAN MOLECULAR GENETICS ONLINE

Tiano, Francesca; Amati, Francesca; Cherubini, Fabio; Morini, Elena; Vancheri, Chiara; Maletta, Sara; Fortuni, Silvia; Serio, Dario; Quatrana, Andrea; Luffarelli, Riccardo; Benini, Monica; Alfedi, Giulia; Panarello, Luca; Rufini, Alessandra; Toschi, Nicola; Frontali, Marina; Romano, Silvia; Marcotulli, Christian; Casali, Carlo; Gioiosa, Silvia; Mariotti, Caterina; Mongelli, Alessia; Fichera, Mario; CondÃ², Ivano; Novelli, Giuseppe; Testi, Roberto; Malisan, Florence

Ricerc@Sapienza

Pubblicazioni

Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes

Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia

Frataxin deficiency in Friedreich's ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival

Acute manganese treatment restores defective autophagic cargo loading in Huntington's disease cell lines.

Curcumin dietary supplementation ameliorates disease phenotype in an animal model of Huntington's disease

Mutant huntingtin interacts with the sterol regulatory element-binding proteins and impairs their nuclear import.

Heteropolymerization of Î±-1-antitrypsin mutants in cell models mimicking heterozygosity

Post-transcriptional regulation of FUS and EWS protein expression by miR-141 during neural differentiation

Global hypermethylation in fetal cortex of Down syndrome due to DNMT3L overexpression