{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["5(17)"],"submitter":["Jansen J"],"pubmed_abstract":["In patients with Gárdos channelopathy (p.R352H), an increased concentration of intracellular Ca2+ was previously reported. This is a surprising finding because the Gárdos channel (KCa3.1) is a K+ channel. Here, we confirm the increased intracellular Ca2+ for patients with the KCa3.1 mutation p.S314P. Furthermore, we provide the concept of KCa3.1 activity resulting in a flickering of red blood cell (RBC) membranepotential, which activates the CaV2.1 channel allowing Ca2+ to enter the RBC. Activity of the nonselective cation channel Piezo1 modulates the aforementioned interplay in away that a closed Piezo1 is in favor of the KCa3.1-CaV2.1 interaction. In contrast, Piezo1 openings compromise the membrane potential flickering, thus limiting the activity of CaV2.1. With the compound NS309, we m"],"journal":["Blood advances"],"pagination":["3303-3308"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8525243"],"repository":["biostudies-literature"],"pubmed_title":["Mechanistic ion channel interactions in red cells of patients with Gardos channelopathy."],"pmcid":["PMC8525243"],"pubmed_authors":["Hertz L","Kaestner L","Jansen J","Bianchi P","Wang X","Zaninoni A","Fermo E","Bernhardt I","Qiao M","Colombatti R"],"additional_accession":[]},"is_claimable":false,"name":"Mechanistic ion channel interactions in red cells of patients with Gardos channelopathy.","description":"In patients with Gárdos channelopathy (p.R352H), an increased concentration of intracellular Ca2+ was previously reported. This is a surprising finding because the Gárdos channel (KCa3.1) is a K+ channel. Here, we confirm the increased intracellular Ca2+ for patients with the KCa3.1 mutation p.S314P. Furthermore, we provide the concept of KCa3.1 activity resulting in a flickering of red blood cell (RBC) membranepotential, which activates the CaV2.1 channel allowing Ca2+ to enter the RBC. Activity of the nonselective cation channel Piezo1 modulates the aforementioned interplay in away that a closed Piezo1 is in favor of the KCa3.1-CaV2.1 interaction. In contrast, Piezo1 openings compromise the membrane potential flickering, thus limiting the activity of CaV2.1. With the compound NS309, we m","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Sep","modification":"2025-04-04T10:55:44.292Z","creation":"2025-04-04T10:55:44.292Z"},"accession":"S-EPMC8525243","cross_references":{"pubmed":["34468723"],"doi":["10.1182/bloodadvances.2020003823"]}}