Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S
Stewart AK, Shmukler BE, Vandorpe DH, Rivera A, Heneghan JF, Li X, Hsu A, Karpatkin M, O'Neill AF, Bauer DE, Heeney MM, John K, Kuypers FA, Gallagher PG, Lux SE, Brugnara C, Westhoff CM, Alper SL. Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S. American Journal Of Physiology - Cell Physiology 2011, 301: c1325-c1343. PMID: 21849667, PMCID: PMC3233792, DOI: 10.1152/ajpcell.00054.2011.Peer-Reviewed Original ResearchConceptsMM bathCation currentBath additionBath exposureOocyte studiesExpression increasesStrong hyperpolarizationFunction mutationsIntracellular pHElevated NaMembrane potentialOocytesDistinct cellular responsesFunction phenotypesInfluxPhenotypeCellular responsesAmine transportDistinct mechanismsElicit distinct cellular responsesPatients