Restoring the trafficking of pathological mutants of the kidney anion exchanger 1
نویسندگان
چکیده
منابع مشابه
Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAE1.
Distal renal tubular acidosis (dRTA) is an inherited disease characterized by the failure of the kidneys to appropriately acidify urine and is associated with mutations in the anion exchanger (AE)1 gene. The effect of the R589H dRTA mutation on the expression of the human erythroid AE1 and the truncated kidney form (kAE1) was examined in transfected human embryonic kidney 293 cells. AE1, AE1 R5...
متن کاملAdaptor protein 1 complexes regulate intracellular trafficking of the kidney anion exchanger 1 in epithelial cells.
Distal renal tubular acidosis (dRTA) can be caused by mutations in the gene encoding the anion exchanger 1 (AE1) and is characterized by defective urinary acidification, metabolic acidosis, and renal stones. AE1 is expressed at the basolateral membrane of type A intercalated cells in the renal cortical collecting duct (kAE1). Two dRTA mutations result in the carboxyl-terminal truncation of kAE1...
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ژورنال
عنوان ژورنال: The FASEB Journal
سال: 2012
ISSN: 0892-6638,1530-6860
DOI: 10.1096/fasebj.26.1_supplement.lb815