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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. Among authors: stefanelli g. 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.
Tyr120Asp mutation alters domain flexibility and dynamics of MeCP2 DNA binding domain leading to impaired DNA interaction: Atomistic characterization of a Rett syndrome causing mutation.
D'Annessa I, Gandaglia A, Brivio E, Stefanelli G, Frasca A, Landsberger N, Di Marino D. D'Annessa I, et al. Among authors: stefanelli g. Biochim Biophys Acta Gen Subj. 2018 May;1862(5):1180-1189. doi: 10.1016/j.bbagen.2018.02.005. Epub 2018 Feb 8. Biochim Biophys Acta Gen Subj. 2018. PMID: 29428602 Free article.
A Novel Mecp2Y120D Knock-in Model Displays Similar Behavioral Traits But Distinct Molecular Features Compared to the Mecp2-Null Mouse Implying Precision Medicine for the Treatment of Rett Syndrome.
Gandaglia A, Brivio E, Carli S, Palmieri M, Bedogni F, Stefanelli G, Bergo A, Leva B, Cattaneo C, Pizzamiglio L, Cicerone M, Bianchi V, Kilstrup-Nielsen C, D'Annessa I, Di Marino D, D'Adamo P, Antonucci F, Frasca A, Landsberger N. Gandaglia A, et al. Among authors: stefanelli g. Mol Neurobiol. 2019 Jul;56(7):4838-4854. doi: 10.1007/s12035-018-1412-2. Epub 2018 Nov 6. Mol Neurobiol. 2019. PMID: 30402709 Free article.
MeCP2 post-translational modifications: a mechanism to control its involvement in synaptic plasticity and homeostasis?
Bellini E, Pavesi G, Barbiero I, Bergo A, Chandola C, Nawaz MS, Rusconi L, Stefanelli G, Strollo M, Valente MM, Kilstrup-Nielsen C, Landsberger N. Bellini E, et al. Among authors: stefanelli g. Front Cell Neurosci. 2014 Aug 13;8:236. doi: 10.3389/fncel.2014.00236. eCollection 2014. Front Cell Neurosci. 2014. PMID: 25165434 Free PMC article. Review.
Trichostatin A decreases the levels of MeCP2 expression and phosphorylation and increases its chromatin binding affinity.
Good KV, Martínez de Paz A, Tyagi M, Cheema MS, Thambirajah AA, Gretzinger TL, Stefanelli G, Chow RL, Krupke O, Hendzel M, Missiaen K, Underhill A, Landsberger N, Ausió J. Good KV, et al. Among authors: stefanelli g. Epigenetics. 2017;12(11):934-944. doi: 10.1080/15592294.2017.1380760. Epub 2017 Dec 5. Epigenetics. 2017. PMID: 29099289 Free PMC article.
Deciphering the Enigma of the Histone H2A.Z-1/H2A.Z-2 Isoforms: Novel Insights and Remaining Questions.
Cheema MS, Good KV, Kim B, Soufari H, O'Sullivan C, Freeman ME, Stefanelli G, Casas CR, Zengeler KE, Kennedy AJ, Eirin Lopez JM, Howard PL, Zovkic IB, Shabanowitz J, Dryhurst DD, Hunt DF, Mackereth CD, Ausió J. Cheema MS, et al. Among authors: stefanelli g. Cells. 2020 May 8;9(5):1167. doi: 10.3390/cells9051167. Cells. 2020. PMID: 32397240 Free PMC article.
98 results