A Novel Missense Mutation in AE1 Causing Autosomal Dominant Distal Renal Tubular Acidosis Retains Normal Transport Function but Is Mistargeted in Polarized Epithelial Cells

Journal of Biological Chemistry

Volumn 279, Issue 14, 2004, Pages 13833-13838

  Rungroj, Nanyawan ^a,b   Devonald, Mark A J ^a   Cuthbert, Alan W ^a   Reimann, Frank ^a   Akkarapatumwong, Varaporn ^b   Yenchitsomanus, Pa Thai ^c   Bennett, William M ^d   Karet, Fiona E ^a,e  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b MAHIDOL UNIVERSITY   (Thailand)

^c MAHIDOL UNIVERSITY   (Thailand)

^d Northwest Renal Clinic   (United States)

^e ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BODY FLUIDS; DISEASES; FLUORESCENCE; IMMUNOLOGY; MUTAGENESIS; PROTEINS;

MUTATIONS; POLARIZED EPITHELIAL CELLS;

CELLS;

4,4' DIISOTHIOCYANATOSTILBENE 2,2' DISULFONIC ACID; ARGININE; BICARBONATE; BICARBONATE CHLORIDE ANTIPORTER; GLYCINE; PROTEIN AE1; UNCLASSIFIED DRUG;

ANIMAL CELL; ANION EXCHANGE; ANION TRANSPORT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BASOLATERAL MEMBRANE; CAUCASIAN; CELL POLARITY; CHLORIDE TRANSPORT; CONTROLLED STUDY; DISEASE SEVERITY; HUMAN; IMMUNOFLUORESCENCE; KIDNEY CALCIFICATION; KIDNEY DISTAL TUBULE; KIDNEY EPITHELIUM; KIDNEY TUBULE ABSORPTION; KIDNEY TUBULE ACIDOSIS; METABOLIC ACIDOSIS; MISSENSE MUTATION; MONOLAYER CULTURE; NONHUMAN; OOCYTE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN TARGETING; PROTEIN TRANSPORT; URINE ACIDIFICATION; URINE PH; WESTERN BLOTTING; XENOPUS;

ACIDOSIS, RENAL TUBULAR; ANIMALS; ANION EXCHANGE PROTEIN 1, ERYTHROCYTE; CELL POLARITY; EPITHELIAL CELLS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FAMILY HEALTH; FEMALE; GENE EXPRESSION; HUMANS; KIDNEY TUBULES, DISTAL; MALE; MUTATION, MISSENSE; OOCYTES; PEDIGREE; XENOPUS;

ANIMALIA;

EID: 1842740905     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.M400188200     Document Type: Article

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