Pubblicazioni

Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species

2022 - HUMAN MOLECULAR GENETICS

Carpentieri, G.; Leoni, C.; Pietraforte, D.; Cecchetti, S.; Iorio, E.; Belardo, A.; Pietrucci, D.; Di Nottia, M.; Pajalunga, D.; Megiorni, F.; Mercurio, L.; Tatti, M.; Camero, S.; Marchese, C.; Rizza, T.; Tirelli, V.; Onesimo, R.; Carrozzo, R.; Rinalducci, S.; Chillemi, G.; Zampino, G.; Tartaglia, M.; Flex, E.

RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis

2022 - HUMAN MOLECULAR GENETICS

Fortugno, Paola; Monetta, Rosanna; Belli, Manuel; Botti, Elisabetta; Angelucci, Francesco; Palmerini, Maria Grazia; Nottola, Stefania Annarita; De Luca, Chiara; Ceccarini, Marina; Salvatore, Marco; Bianchi, Luca; Macioc, Pompeo

GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome

2017 - HUMAN MOLECULAR GENETICS

Palencia-Campos, A.; Ullah, A.; Nevado, J.; Yildirim, R.; Unal, E.; Ciorraga, M.; Barruz, P.; Chico, L.; Piceci-Sparascio, F.; Guida, V.; De Luca, A.; Kayserili, H.; Ullah, I.; Burmeister, M.; Lapunzina, P.; Ahmad, W.; Morales, A. V.; Ruiz-Perez, V. L.

Amyotrophic lateral sclerosis and denervation alter sphingolipids and up-regulate glucosylceramide synthase

2015 - HUMAN MOLECULAR GENETICS

Henriques, A.; Croixmarie, V.; Priestman, D. A.; Rosenbohm, A.; Dirrig-Grosch, S.; D'Ambra, E.; Huebecker, M.; Hussain, G.; Boursier-Neyret, C.; Echaniz-Laguna, A.; Ludolph, A. C.; Platt, F. M.; Walther, B.; Spedding, M.; Loeffler, J. -P.; De Aguilar, J. -L. G.