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FOXG1 is responsible for the congenital variant of Rett syndrome.
Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A, Pollazzon M, Buoni S, Spiga O, Ricciardi S, Meloni I, Longo I, Mari F, Broccoli V, Zappella M, Renieri A. Ariani F, et al. Among authors: ricciardi s. Am J Hum Genet. 2008 Jul;83(1):89-93. doi: 10.1016/j.ajhg.2008.05.015. Epub 2008 Jun 19. Am J Hum Genet. 2008. PMID: 18571142 Free PMC article.
CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.
Ricciardi S, Ungaro F, Hambrock M, Rademacher N, Stefanelli G, Brambilla D, Sessa A, Magagnotti C, Bachi A, Giarda E, Verpelli C, Kilstrup-Nielsen C, Sala C, Kalscheuer VM, Broccoli V. Ricciardi S, et al. Nat Cell Biol. 2012 Sep;14(9):911-23. doi: 10.1038/ncb2566. Epub 2012 Aug 26. Nat Cell Biol. 2012. PMID: 22922712 Free PMC article.
CDKL5 and Shootin1 Interact and Concur in Regulating Neuronal Polarization.
Nawaz MS, Giarda E, Bedogni F, La Montanara P, Ricciardi S, Ciceri D, Alberio T, Landsberger N, Rusconi L, Kilstrup-Nielsen C. Nawaz MS, et al. Among authors: ricciardi s. PLoS One. 2016 Feb 5;11(2):e0148634. doi: 10.1371/journal.pone.0148634. eCollection 2016. PLoS One. 2016. PMID: 26849555 Free PMC article.
SBDS-Deficient Cells Have an Altered Homeostatic Equilibrium due to Translational Inefficiency Which Explains their Reduced Fitness and Provides a Logical Framework for Intervention.
Calamita P, Miluzio A, Russo A, Pesce E, Ricciardi S, Khanim F, Cheroni C, Alfieri R, Mancino M, Gorrini C, Rossetti G, Peluso I, Pagani M, Medina DL, Rommens J, Biffo S. Calamita P, et al. Among authors: ricciardi s. PLoS Genet. 2017 Jan 5;13(1):e1006552. doi: 10.1371/journal.pgen.1006552. eCollection 2017 Jan. PLoS Genet. 2017. PMID: 28056084 Free PMC article.
Crosstalks between translation and metabolism in cancer.
Biffo S, Manfrini N, Ricciardi S. Biffo S, et al. Among authors: ricciardi s. Curr Opin Genet Dev. 2018 Feb;48:75-81. doi: 10.1016/j.gde.2017.10.011. Epub 2017 Nov 15. Curr Opin Genet Dev. 2018. PMID: 29153483 Review.
591 results