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The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca2+-microdomains by tuning PMCA3 activity.
Vallese F, Maso L, Giamogante F, Poggio E, Barazzuol L, Salmaso A, Lopreiato R, Cendron L, Navazio L, Zanni G, Weber Y, Kovacevic-Preradovic T, Keren B, Torraco A, Carrozzo R, Peretto F, Peggion C, Ferro S, Marin O, Zanotti G, Calì T, Brini M, Carafoli E. Vallese F, et al. Among authors: lopreiato r. Cell Death Dis. 2022 Oct 7;13(10):855. doi: 10.1038/s41419-022-05300-y. Cell Death Dis. 2022. PMID: 36207321 Free PMC article.
Nucleolin Rescues TDP-43 Toxicity in Yeast and Human Cell Models.
Peggion C, Massimino ML, Stella R, Bortolotto R, Agostini J, Maldi A, Sartori G, Tonello F, Bertoli A, Lopreiato R. Peggion C, et al. Among authors: lopreiato r. Front Cell Neurosci. 2021 Apr 12;15:625665. doi: 10.3389/fncel.2021.625665. eCollection 2021. Front Cell Neurosci. 2021. PMID: 33912014 Free PMC article.
A V1143F mutation in the neuronal-enriched isoform 2 of the PMCA pump is linked with ataxia.
Vicario M, Zanni G, Vallese F, Santorelli F, Grinzato A, Cieri D, Berto P, Frizzarin M, Lopreiato R, Zonta F, Ferro S, Sandre M, Marin O, Ruzzene M, Bertini E, Zanotti G, Brini M, Calì T, Carafoli E. Vicario M, et al. Among authors: lopreiato r. Neurobiol Dis. 2018 Jul;115:157-166. doi: 10.1016/j.nbd.2018.04.009. Epub 2018 Apr 12. Neurobiol Dis. 2018. PMID: 29655659
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: lopreiato r. 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.
30 results