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TGS1 impacts snRNA 3'-end processing, ameliorates survival motor neuron-dependent neurological phenotypes in vivo and prevents neurodegeneration.
Chen L, Roake CM, Maccallini P, Bavasso F, Dehghannasiri R, Santonicola P, Mendoza-Ferreira N, Scatolini L, Rizzuti L, Esposito A, Gallotta I, Francia S, Cacchione S, Galati A, Palumbo V, Kobin MA, Tartaglia GG, Colantoni A, Proietti G, Wu Y, Hammerschmidt M, De Pittà C, Sales G, Salzman J, Pellizzoni L, Wirth B, Di Schiavi E, Gatti M, Artandi SE, Raffa GD. Chen L, et al. Among authors: esposito a. Nucleic Acids Res. 2022 Nov 28;50(21):12400-12424. doi: 10.1093/nar/gkac659. Nucleic Acids Res. 2022. PMID: 35947650 Free PMC article.
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
Fassio A, Esposito A, Kato M, Saitsu H, Mei D, Marini C, Conti V, Nakashima M, Okamoto N, Olmez Turker A, Albuz B, Semerci Gündüz CN, Yanagihara K, Belmonte E, Maragliano L, Ramsey K, Balak C, Siniard A, Narayanan V; C4RCD Research Group; Ohba C, Shiina M, Ogata K, Matsumoto N, Benfenati F, Guerrini R. Fassio A, et al. Among authors: esposito a. Brain. 2018 Jun 1;141(6):1703-1718. doi: 10.1093/brain/awy092. Brain. 2018. PMID: 29668857 Free PMC article.
Exogenous Alpha-Synuclein Alters Pre- and Post-Synaptic Activity by Fragmenting Lipid Rafts.
Emanuele M, Esposito A, Camerini S, Antonucci F, Ferrara S, Seghezza S, Catelani T, Crescenzi M, Marotta R, Canale C, Matteoli M, Menna E, Chieregatti E. Emanuele M, et al. Among authors: esposito a. EBioMedicine. 2016 May;7:191-204. doi: 10.1016/j.ebiom.2016.03.038. Epub 2016 Apr 5. EBioMedicine. 2016. PMID: 27322472 Free PMC article.
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.
Esposito A, Falace A, Wagner M, Gal M, Mei D, Conti V, Pisano T, Aprile D, Cerullo MS, De Fusco A, Giovedì S, Seibt A, Magen D, Polster T, Eran A, Stenton SL, Fiorillo C, Ravid S, Mayatepek E, Hafner H, Wortmann S, Levanon EY, Marini C, Mandel H, Benfenati F, Distelmaier F, Fassio A, Guerrini R. Esposito A, et al. Brain. 2019 Dec 1;142(12):3876-3891. doi: 10.1093/brain/awz326. Brain. 2019. PMID: 31688942
Lesional and non-lesional epilepsies: A blurring genetic boundary.
Guerrini R, Parrini E, Esposito A, Fassio A, Conti V. Guerrini R, et al. Among authors: esposito a. Eur J Paediatr Neurol. 2020 Jan;24:24-29. doi: 10.1016/j.ejpn.2019.12.013. Epub 2019 Dec 12. Eur J Paediatr Neurol. 2020. PMID: 31875834 Review.
1,425 results