Functional characterization and modified rescue of novel AE1 mutation R730C associated with overhydrated cation leak stomatocytosis

American Journal of Physiology - Cell Physiology

Volumn 300, Issue 5, 2011, Pages

  Stewart, Andrew K ^a,b   Kedar, Prabhakar S ^a,b,c   Shmukler, Boris E ^a,b   Vandorpe, David H ^a,b   Hsu, Ann ^a,b   Glader, Bertil ^d   Rivera, Alicia ^a,b   Brugnara, Carlo ^a,b   Alper, Seth L ^a,b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c NATIONAL INSTITUTE OF IMMUNOHAEMATOLOGY   (India)

^d STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Cation leak; Patch clamp; Sulfate transport; Xenopus oocyte

Indexed keywords

2 (TRIMETHYLAMMONIUM)ETHYL METHANETHIOSULFONATE BROMIDE; 2 AMINOETHYL METHANETHIOSULFONATE HYDROBROMIDE; ADENOSINE TRIPHOSPHATASE (POTASSIUM SODIUM); CYTOKERATIN AE1; EPITOPE; GLYCOPHORIN A; OUABAIN; SODIUM 2 SULFONATOETHYL METHANETHIOSULFONATE; THIOMESYLIC ACID METHYL ESTER; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ANEMIA; ANIMAL CELL; ARTICLE; BLOOD CELL COUNT; CHLORIDE TRANSPORT; CLINICAL ARTICLE; ERYTHROCYTE; FEMALE; GENE MUTATION; HEMATOLOGICAL PARAMETERS; HUMAN; HUMAN CELL; ION TRANSPORT; MALE; NONHUMAN; OOCYTE; PH; PRIORITY JOURNAL; PROTEIN EXPRESSION; RETICULOCYTE; SODIUM TRANSPORT; STOMATOCYTOSIS; XENOPUS LAEVIS;

ADULT; AMINO ACID SUBSTITUTION; ANEMIA, HEMOLYTIC, CONGENITAL; ANIMALS; ANION EXCHANGE PROTEIN 1, ERYTHROCYTE; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; ENZYME INHIBITORS; ERYTHROCYTES; FEMALE; GLYCOPHORIN; HUMANS; HYDROPS FETALIS; ION CHANNELS; IONOPHORES; MALE; MEMBRANE POTENTIALS; MESYLATES; MUTATION; NYSTATIN; OUABAIN; RUBIDIUM; SULFATES; XENOPUS LAEVIS;

STROPHANTHUS GRATUS; XENOPUS LAEVIS;

EID: 79955563325     PISSN: 03636143     EISSN: 15221563     Source Type: Journal    
DOI: 10.1152/ajpcell.00447.2010     Document Type: Article

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