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Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients.
Perciballi E, Bovio F, Rosati J, Arrigoni F, D'Anzi A, Lattante S, Gelati M, De Marchi F, Lombardi I, Ruotolo G, Forcella M, Mazzini L, D'Alfonso S, Corrado L, Sabatelli M, Conte A, De Gioia L, Martino S, Vescovi AL, Fusi P, Ferrari D. Perciballi E, et al. Among authors: d anzi a. Antioxidants (Basel). 2022 Apr 22;11(5):815. doi: 10.3390/antiox11050815. Antioxidants (Basel). 2022. PMID: 35624679 Free PMC article.
Generation of an induced pluripotent stem cell line, CSSi011-A (6534), from an Amyotrophic lateral sclerosis patient with heterozygous L145F mutation in SOD1 gene.
D'Anzi A, Altieri F, Perciballi E, Ferrari D, Bernardini L, Goldoni M, Mazzini L, De Marchi F, Di Pierro A, D'Alfonso S, Gelati M, Vescovi AL, Rosati J. D'Anzi A, et al. Stem Cell Res. 2020 Jul 25;47:101924. doi: 10.1016/j.scr.2020.101924. Online ahead of print. Stem Cell Res. 2020. PMID: 32739880 Free article.
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.
Piceci-Sparascio F, Palencia-Campos A, Soto-Bielicka P, D'Anzi A, Guida V, Rosati J, Caparros-Martin JA, Torrente I, D'Asdia MC, Versacci P, Briuglia S, Lapunzina P, Tartaglia M, Marino B, Digilio MC, Ruiz-Perez VL, De Luca A. Piceci-Sparascio F, et al. Among authors: d anzi a. Hum Mutat. 2020 Dec;41(12):2087-2093. doi: 10.1002/humu.24112. Epub 2020 Oct 14. Hum Mutat. 2020. PMID: 32906221