ArticleThe Biochemical journal2002
Impaired trafficking of human kidney anion exchanger (kAE1) caused by hetero-oligomer formation with a truncated mutant associated with distal renal tubular acidosis.
Article in The Biochemical journal, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 72 citations in OpenAlex.
- Urinary sodium wasting and disrupted collecting duct function in mice with distal renal tubular acidosis mutations.Disease models & mechanisms · 2025Article
- Molecular mechanism of hyperactivation conferred by a truncation of TRPA1.Nature communications · 2023Article
- Review
- The kidney anion exchanger 1 affects tight junction properties via claudin-4.Scientific reports · 2019Article
- Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead.Pediatric health, medicine and therapeutics · 2018Review
- PDLIM5 links kidney anion exchanger 1 (kAE1) to ILK and is required for membrane targeting of kAE1.Scientific reports · 2017Article
- Renal peroxiredoxin 6 interacts with anion exchanger 1 and plays a novel role in pH homeostasis.Kidney international · 2016Article
- Incomplete distal renal tubular acidosis from a heterozygous mutation of the V-ATPase B1 subunit.American journal of physiology. Renal physiology · 2014Article
- NBCe1A dimer assemble visualized by bimolecular fluorescence complementation.American journal of physiology. Renal physiology · 2014Article
- Identification of dominant negative effect of L522P mutation in the electrogenic Na⁺-HCO₃⁻ cotransporter NBCe1.Pflugers Archiv : European journal of physiology · 2013Article
- A new class of endoplasmic reticulum export signal PhiXPhiXPhi for transmembrane proteins and its selective interaction with Sec24C.The Journal of biological chemistry · 2013Article
- Cell surface rescue of kidney anion exchanger 1 mutants by disruption of chaperone interactions.The Journal of biological chemistry · 2010Article
- Defective membrane expression of the Na(+)-HCO(3)(-) cotransporter NBCe1 is associated with familial migraine.Proceedings of the National Academy of Sciences of the United States of America · 2010Article
- Trafficking defects of the Southeast Asian ovalocytosis deletion mutant of anion exchanger 1 membrane proteins.The Biochemical journal · 2005Article
- Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations.Journal of molecular and genetic medicine : an international journal of biomedical research · 2005Article
- Kidney stone disease.The Journal of clinical investigation · 2005Review
- Palmitoylation is not required for trafficking of human anion exchanger 1 to the cell surface.The Biochemical journal · 2004Article
- Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population.Journal of human genetics · 2003Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal dominant distal renal tubular acidosis (dRTA) has been associated with several mutations in the anion exchanger AE1 gene. The effect of an 11-amino-acid C-terminal dRTA truncation mutation (901 stop) on the expression of kidney AE1 (kAE1) and erythroid AE1 was examined in transiently transfected HEK-293 cells. Unlike the wild-type proteins, kAE1 901 stop and AE1 901 stop mutants exhibited impaired trafficking from the endoplasmic reticulum to the plasma membrane as determined by immunolocalization, cell-surface biotinylation, oligosaccharide processing and pulse-chase experiments. The 901 stop mutants were able to bind to an inhibitor affinity resin, suggesting that these mutant membrane proteins were not grossly misfolded. Co-expression of wild-type and mutant kAE1 or AE1 resulted in intracellular retention of the wild-type proteins in a pre-medial Golgi compartment. This dominant negative effect was due to hetero-oligomer formation of the mutant and wild-type proteins. Intracellular retention of kAE1 in the alpha-intercalated cells of the kidney would account for the impaired acid secretion into the urine characteristic of dRTA.
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