Genomes and Genes


M Brini


Affiliation: University of Padova
Country: Italy


  1. Brini M, Di Leva F, Ortega C, Domi T, Ottolini D, Leonardi E, et al. Deletions and mutations in the acidic lipid-binding region of the plasma membrane Ca2+ pump: a study on different splicing variants of isoform 2. J Biol Chem. 2010;285:30779-91 pubmed publisher
    ..A structural interpretation of the interplay of the pump with phospholipids, and of the mechanism of their activation, is proposed on the basis of molecular modeling studies. ..
  2. Brini M, Cali T, Ottolini D, Carafoli E. Calcium pumps: why so many?. Compr Physiol. 2012;2:1045-60 pubmed publisher
  3. Vicario M, Zanni G, Vallese F, Santorelli F, Grinzato A, Cieri D, et al. A V1143F mutation in the neuronal-enriched isoform 2 of the PMCA pump is linked with ataxia. Neurobiol Dis. 2018;115:157-166 pubmed publisher
    ..Biochemical and molecular dynamics studies on the mutated PMCA2 have revealed that the V1143F substitution alters the binding of calmodulin to the CaM-BD leading to impaired Ca2+ ejection. ..
  4. Brini M, Cali T, Ottolini D, Carafoli E. Neuronal calcium signaling: function and dysfunction. Cell Mol Life Sci. 2014;71:2787-814 pubmed publisher
    ..The contribution of altered Ca(2+) signaling in the most important neurological disorders will then be considered. ..
  5. Calì T, Ottolini D, Soriano M, Brini M. A new split-GFP-based probe reveals DJ-1 translocation into the mitochondrial matrix to sustain ATP synthesis upon nutrient deprivation. Hum Mol Genet. 2015;24:1045-60 pubmed publisher
    ..By this new split-GFP-based tool, we can resolve mitochondrial compartmentalization of proteins which are not constitutively resident in mitochondria but translocate to them in response to specific stimuli. ..
  6. Cali T, Lopreiato R, Shimony J, Vineyard M, Frizzarin M, Zanni G, et al. A Novel Mutation in Isoform 3 of the Plasma Membrane Ca2+ Pump Impairs Cellular Ca2+ Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α Mutations. J Biol Chem. 2015;290:16132-41 pubmed publisher
  7. Vicario M, Cali T, Cieri D, Vallese F, Bortolotto R, Lopreiato R, et al. A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect. Biochim Biophys Acta Mol Basis Dis. 2017;1863:3303-3312 pubmed publisher
    ..The findings highlight the association of PMCA3 mutations to cerebellar ataxia and strengthen the possibility that PMCAs act as digenic modulators in Ca2+-linked pathologies. ..
  8. Cieri D, Vicario M, Giacomello M, Vallese F, Filadi R, Wagner T, et al. SPLICS: a split green fluorescent protein-based contact site sensor for narrow and wide heterotypic organelle juxtaposition. Cell Death Differ. 2018;25:1131-1145 pubmed publisher
    ..SPLICS detected contact sites in soma and axons of D. rerio Rohon Beard (RB) sensory neurons in vivo, extending its use to analyses of organelle juxtaposition in the whole animal. ..