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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: frizzarin m. Neurobiol Dis. 2018 Jul;115:157-166. doi: 10.1016/j.nbd.2018.04.009. Epub 2018 Apr 12. Neurobiol Dis. 2018. PMID: 29655659
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. Among authors: frizzarin m. 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.
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