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Calsequestrin, a key protein in striated muscle health and disease.
Rossi D, Gamberucci A, Pierantozzi E, Amato C, Migliore L, Sorrentino V. Rossi D, et al. Among authors: gamberucci a. J Muscle Res Cell Motil. 2021 Jun;42(2):267-279. doi: 10.1007/s10974-020-09583-6. Epub 2020 Jun 2. J Muscle Res Cell Motil. 2021. PMID: 32488451 Review.
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.
Barone V, Del Re V, Gamberucci A, Polverino V, Galli L, Rossi D, Costanzi E, Toniolo L, Berti G, Malandrini A, Ricci G, Siciliano G, Vattemi G, Tomelleri G, Pierantozzi E, Spinozzi S, Volpi N, Fulceri R, Battistutta R, Reggiani C, Sorrentino V. Barone V, et al. Among authors: gamberucci a. Hum Mutat. 2017 Dec;38(12):1761-1773. doi: 10.1002/humu.23338. Epub 2017 Sep 26. Hum Mutat. 2017. PMID: 28895244
A novel homozygous mutation in the TRDN gene causes a severe form of pediatric malignant ventricular arrhythmia.
Rossi D, Gigli L, Gamberucci A, Bordoni R, Pietrelli A, Lorenzini S, Pierantozzi E, Peretto G, De Bellis G, Della Bella P, Ferrari M, Sorrentino V, Benedetti S, Sala S, Di Resta C. Rossi D, et al. Among authors: gamberucci a. Heart Rhythm. 2020 Feb;17(2):296-304. doi: 10.1016/j.hrthm.2019.08.018. Epub 2019 Aug 19. Heart Rhythm. 2020. PMID: 31437535
Negative chronotropism, positive inotropism and lusitropism of 3,5-di-t-butyl-4-hydroxyanisole (DTBHA) on rat heart preparations occur through reduction of RyR2 Ca2+ leak.
Pessina F, Gamberucci A, Chen J, Liu B, Vangheluwe P, Gorelli B, Lorenzini S, Spiga O, Trezza A, Sgaragli G, Saponara S. Pessina F, et al. Among authors: gamberucci a. Biochem Pharmacol. 2018 Sep;155:434-443. doi: 10.1016/j.bcp.2018.07.026. Epub 2018 Jul 21. Biochem Pharmacol. 2018. PMID: 30036502
66 results