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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: gallotta i. Nucleic Acids Res. 2022 Nov 28;50(21):12400-12424. doi: 10.1093/nar/gkac659. Nucleic Acids Res. 2022. PMID: 35947650 Free PMC article.
A new Caenorhabditis elegans model to study copper toxicity in Wilson disease.
Catalano F, O'Brien TJ, Mekhova AA, Sepe LV, Elia M, De Cegli R, Gallotta I, Santonicola P, Zampi G, Ilyechova EY, Romanov AA, Samuseva PD, Salzano J, Petruzzelli R, Polishchuk EV, Indrieri A, Kim BE, Brown AEX, Puchkova LV, Di Schiavi E, Polishchuk RS. Catalano F, et al. Among authors: gallotta i. Traffic. 2024 Jan;25(1):e12920. doi: 10.1111/tra.12920. Epub 2023 Oct 27. Traffic. 2024. PMID: 37886910
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
Martinelli S, Krumbach OHF, Pantaleoni F, Coppola S, Amin E, Pannone L, Nouri K, Farina L, Dvorsky R, Lepri F, Buchholzer M, Konopatzki R, Walsh L, Payne K, Pierpont ME, Vergano SS, Langley KG, Larsen D, Farwell KD, Tang S, Mroske C, Gallotta I, Di Schiavi E, Della Monica M, Lugli L, Rossi C, Seri M, Cocchi G, Henderson L, Baskin B, Alders M, Mendoza-Londono R, Dupuis L, Nickerson DA, Chong JX; University of Washington Center for Mendelian Genomics; Meeks N, Brown K, Causey T, Cho MT, Demuth S, Digilio MC, Gelb BD, Bamshad MJ, Zenker M, Ahmadian MR, Hennekam RC, Tartaglia M, Mirzaa GM. Martinelli S, et al. Among authors: gallotta i. Am J Hum Genet. 2018 Feb 1;102(2):309-320. doi: 10.1016/j.ajhg.2017.12.015. Epub 2018 Jan 25. Am J Hum Genet. 2018. PMID: 29394990 Free PMC article.
Extracellular proteostasis prevents aggregation during pathogenic attack.
Gallotta I, Sandhu A, Peters M, Haslbeck M, Jung R, Agilkaya S, Blersch JL, Rödelsperger C, Röseler W, Huang C, Sommer RJ, David DC. Gallotta I, et al. Nature. 2020 Aug;584(7821):410-414. doi: 10.1038/s41586-020-2461-z. Epub 2020 Jul 8. Nature. 2020. PMID: 32641833
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