Article
Common PIEZO1 Allele in African Populations Causes RBC Dehydration and Attenuates Plasmodium Infection.
Cell - 5 Apr 2018
Ma Shang, Cahalan Stuart, LaMonte Gregory, Grubaugh Nathan D, Zeng Weizheng, Murthy Swetha E, Paytas Emma, Gamini Ramya, Lukacs Viktor, Whitwam Tess, Loud Meaghan, Lohia Rakhee, Berry Laurence, Khan Shahid M, Janse Chris J, Bandell Michael, Schmedt Christian, Wengelnik Kai, Su Andrew I, Honore Eric, Winzeler Elizabeth A, Andersen Kristian G, Patapoutian Ardem
Abstract excerpt
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...
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