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dc.contributor.author Zámbó Boglárka
dc.contributor.author Várady György
dc.contributor.author Padányi Rita
dc.contributor.author Szabó Edit Zsuzsanna
dc.contributor.author Németh Adrienn
dc.contributor.author Langó Tamás
dc.contributor.author Enyedi Ágnes
dc.contributor.author Sarkadi Balázs
dc.date.accessioned 2018-10-01T09:37:25Z
dc.date.available 2018-10-01T09:37:25Z
dc.date.issued 2017
dc.identifier.citation pagination=73-79; journalVolume=65; journalTitle=CELL CALCIUM;
dc.identifier.uri http://repo.lib.semmelweis.hu//handle/123456789/5565
dc.identifier.uri doi:10.1016/j.ceca.2017.02.001
dc.description.abstract Plasma membrane Ca2+-ATPases are key calcium exporter proteins in most tissues, and PMCA4b is the main calcium transporter in the human red blood cells (RBCs). In order to assess the expression level of PMCA4b, we have developed a flow cytometry and specific antibody binding method to quantitatively detect this protein in the erythrocyte membrane. Interestingly, we found several healthy volunteers showing significantly reduced expression of RBC-PMCA4b. Western blot analysis of isolated RBC membranes confirmed this observation, and indicated that there are no compensatory alterations in other PMCA isoforms. In addition, reduced PMCA4b levels correlated with a lower calcium extrusion capacity in these erythrocytes. When exploring the potential genetic background of the reduced PMCA4b levels, we found no missense mutations in the ATP2B4 coding regions, while a formerly unrecognized minor haplotype in the predicted second promoter region closely correlated with lower erythrocyte PMCA4b protein levels. In recent GWA studies, SNPs in this ATP2B4 haplotype have been linked to reduced mean corpuscular hemoglobin concentrations (MCHC), and to protection against malaria infection. Our data suggest that an altered regulation of gene expression is responsible for the reduced RBC-PMCA4b levels that is probably linked to the development of human disease-related phenotypes.
dc.relation.ispartof urn:issn:0143-4160
dc.title Decreased calcium pump expression in human erythrocytes is connected to a minor haplotype in the ATP2B4 gene.
dc.type Journal Article
dc.date.updated 2018-06-07T11:17:30Z
dc.language.rfc3066 en
dc.identifier.mtmt 3190054
dc.identifier.wos 000403992700009
dc.identifier.pubmed 28216081
dc.contributor.department SE/AOK/I/BSI/MTA-SE Molekuláris Biofizikai Kutatócsoport
dc.contributor.institution Semmelweis Egyetem


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