{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Ma S"],"funding":["NCATS NIH HHS","NIDCR NIH HHS","NIH NCATS CTSA","Howard Hughes Medical Institute","NIAID NIH HHS","Calibr-GHDDI Gates postdoctoral fellowship","Pew Biomedical Scholar","A.P. Giannini postdoctoral fellowship","NIH"],"pagination":["443-455.e12"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5889333"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["173(2)"],"pubmed_abstract":["Hereditary xerocytosis is thought to be a rare genetic condition characterized by red blood cell (RBC) dehydration with mild hemolysis. RBC dehydration is linked to reduced Plasmodium infection in vitro; however, the role of RBC dehydration in protection against malaria in vivo is unknown. Most cases of hereditary xerocytosis are associated with gain-of-function mutations in PIEZO1, a mechanically activated ion channel. We engineered a mouse model of hereditary xerocytosis and show that Plasmodium infection fails to cause experimental cerebral malaria in these mice due to the action of Piezo1 in RBCs and in T cells. Remarkably, we identified a novel human gain-of-function PIEZO1 allele, E756del, present in a third of the African population. RBCs from individuals carrying this allele are de"],"journal":["Cell"],"pubmed_title":["Common PIEZO1 Allele in African Populations Causes RBC Dehydration and Attenuates Plasmodium Infection."],"pmcid":["PMC5889333"],"funding_grant_id":["UL1TR001114","UL1 TR001114","R01 AI090141","R01 AI103058","R01 DE022358","T32 AI007244","AI103058","AI090141"],"pubmed_authors":["Lohia R","Su AI","Ma S","Khan SM","Paytas E","Gamini R","Schmedt C","Lukacs V","Whitwam T","Zeng W","Honore E","Patapoutian A","Berry L","Grubaugh ND","Andersen KG","Janse CJ","Bandell M","Winzeler EA","Loud M","Cahalan S","LaMonte G","Wengelnik K","Murthy SE"],"additional_accession":[]},"is_claimable":false,"name":"Common PIEZO1 Allele in African Populations Causes RBC Dehydration and Attenuates Plasmodium Infection.","description":"Hereditary xerocytosis is thought to be a rare genetic condition characterized by red blood cell (RBC) dehydration with mild hemolysis. RBC dehydration is linked to reduced Plasmodium infection in vitro; however, the role of RBC dehydration in protection against malaria in vivo is unknown. Most cases of hereditary xerocytosis are associated with gain-of-function mutations in PIEZO1, a mechanically activated ion channel. We engineered a mouse model of hereditary xerocytosis and show that Plasmodium infection fails to cause experimental cerebral malaria in these mice due to the action of Piezo1 in RBCs and in T cells. Remarkably, we identified a novel human gain-of-function PIEZO1 allele, E756del, present in a third of the African population. RBCs from individuals carrying this allele are de","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018 Apr","modification":"2026-05-03T07:54:27.55Z","creation":"2019-06-06T19:17:55Z"},"accession":"S-EPMC5889333","cross_references":{"pubmed":["29576450"],"doi":["10.1016/j.cell.2018.02.047"]}}