Article
Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S.
American journal of physiology. Cell physiology - 1 Dec 2011
Stewart Andrew K, Shmukler Boris E, Vandorpe David H, Rivera Alicia, Heneghan John F, Li Xiaojin, Hsu Ann, Karpatkin Margaret, O'Neill Allison F, Bauer Daniel E, Heeney Matthew M, John Kathryn, Kuypers Frans A, Gallagher Patrick G, Lux Samuel E, Brugnara Carlo, Westhoff Connie M, Alper Seth L
Abstract excerpt
Four patients with overhydrated cation leak stomatocytosis (OHSt) exhibited the heterozygous RhAG missense mutation F65S. OHSt erythrocytes were osmotically fragile, with elevated Na and decreased K contents and increased cation channel-like activity. Xenopus oocytes expressing wild-type RhAG and RhAG F65S exhibited increased ouabain and bumetanide-resistant uptake of Li(+) and (86)Rb(+), with secondarily...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.