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Spontaneous shaker rat mutant - a new model for X-linked tremor/ataxia.
Figueroa KP, Paul S, Calì T, Lopreiato R, Karan S, Frizzarin M, Ames D, Zanni G, Brini M, Dansithong W, Milash B, Scoles DR, Carafoli E, Pulst SM. Figueroa KP, et al. Among authors: cali t. Dis Model Mech. 2016 May 1;9(5):553-62. doi: 10.1242/dmm.022848. Epub 2016 Mar 24. Dis Model Mech. 2016. PMID: 27013529 Free PMC article.
The ataxia related G1107D mutation of the plasma membrane Ca2+ ATPase isoform 3 affects its interplay with calmodulin and the autoinhibition process.
Calì T, Frizzarin M, Luoni L, Zonta F, Pantano S, Cruz C, Bonza MC, Bertipaglia I, Ruzzene M, De Michelis MI, Damiano N, Marin O, Zanni G, Zanotti G, Brini M, Lopreiato R, Carafoli E. Calì T, et al. Biochim Biophys Acta Mol Basis Dis. 2017 Jan;1863(1):165-173. doi: 10.1016/j.bbadis.2016.09.007. Epub 2016 Sep 12. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 27632770 Free article.
A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect.
Vicario M, Calì T, Cieri D, Vallese F, Bortolotto R, Lopreiato R, Zonta F, Nardella M, Micalizzi A, Lefeber DJ, Valente EM, Bertini E, Zanotti G, Zanni G, Brini M, Carafoli E. Vicario M, et al. Among authors: cali t. Biochim Biophys Acta Mol Basis Dis. 2017 Dec;1863(12):3303-3312. doi: 10.1016/j.bbadis.2017.08.006. Epub 2017 Aug 12. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 28807751 Free article.
100 results