Francesco Zorzato, PhD
Affiliations: | Dipartimento di Medicina Sperimentale e Diagnostica Sezione di Patologia Generale | Universtà di Ferrara |
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Publications
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Benucci S, Ruiz A, Franchini M, et al. (2024) A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice. The Journal of General Physiology. 156 |
Eckhardt J, Ruiz A, Koenig S, et al. (2023) Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive mutations linked to congenital myopathies. Elife. 12 |
Bachmann C, Franchini M, Van den Bersselaar LR, et al. (2022) Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies. Brain Communications. 4: fcac224 |
Ruiz A, Benucci S, Duthaler U, et al. (2022) Improvement of muscle strength in a mouse model for congenital myopathy treated with HDAC and DNA methyltransferase inhibitors. Elife. 11 |
Ruizl A, Eckhardt J, Treves S, et al. (2022) Molecular basis of impaired muscle function in a mouse model of congenital myopathy due to compound heterozygous RYR1 mutations. The Journal of General Physiology. 154 |
Treves S, Girard T, Zorzato F. (2021) Functional Characterization of Endogenously Expressed Human RYR1 Variants. Journal of Visualized Experiments : Jove |
Reddish FN, Miller CL, Deng X, et al. (2021) Rapid subcellular calcium responses and dynamics by calcium sensor G-CatchER. Iscience. 24: 102129 |
Elbaz M, Ruiz A, Nicolay S, et al. (2020) Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow- twitch muscles in mice. The Journal of Biological Chemistry |
Eckhardt J, Bachmann C, Benucci S, et al. (2020) Molecular basis of impaired extraocular muscle function in a mouse model of congenital myopathy due to compound heterozygous Ryr1 mutations. Human Molecular Genetics |
Eckhardt J, Bachmann C, Sekulic-Jablanovic M, et al. (2019) Extraocular muscle function is impaired in mice. The Journal of General Physiology |