Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAE1

American Journal of Physiology. Renal Physiology
J QuiltyR A Reithmeier

Abstract

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 R589H, and kAE1 were present at the cell surface, whereas kAE1 R589H was located primarily intracellularly as shown by immunofluorescence, cell surface biotinylation, N-glycosylation, and anion transport assays. Coexpression of kAE1 R589H reduced the cell surface expression of kAE1 and AE1 by a dominant-negative effect, due to heterodimer formation. The mutant AE1 and kAE1 bound to an inhibitor affinity resin, suggesting that they were not grossly misfolded. Other mutations at R589 also prevented the formation of the cell surface form of kAE1, indicating that this conserved arginine residue is important for proper trafficking. The R589H dRTA mutation creates a severe trafficking defect in kAE1 but not in erythroid AE1.

References

Sep 1, 1979·Proceedings of the National Academy of Sciences of the United States of America·H TowbinJ Gordon
Feb 21, 1978·Biochimica Et Biophysica Acta·S GrinsteinA Rothstein
Jul 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·S L AlperD Brown
Jan 1, 1989·Annual Review of Biophysics and Biophysical Chemistry·M L Jennings
Aug 1, 1987·The American Journal of Physiology·S WagnerD Drenckhahn
Dec 1, 1993·The American Journal of Physiology·A Kollert-JönsD Drenckhahn
Jul 28, 1995·The Journal of Biological Chemistry·C C WangP S Low
Apr 14, 1995·The Journal of Biological Chemistry·J R CaseyR R Kopito
Aug 1, 1994·Current Opinion in Cell Biology·T Nilsson, G Warren
Sep 13, 1996·The Journal of Biological Chemistry·Y DingR Kopito
Nov 5, 1997·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·R RysaváP Jarolím
Feb 14, 1998·The Journal of Biological Chemistry·J ChenQ Al-Awqati
Mar 10, 1998·Molecular Membrane Biology·M J Tanner
May 30, 1998·Proceedings of the National Academy of Sciences of the United States of America·F E KaretR P Lifton
Dec 17, 1998·The Journal of Clinical Investigation·V S TanphaichitrS L Alper
Oct 25, 2000·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·J Rodríguez-Soriano
Jan 10, 2001·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·S WeberM Konrad
Feb 13, 2001·Annual Review of Medicine·D BatlleA Mitra

❮ Previous
Next ❯

Citations

Aug 29, 2014·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Céline SchaefferLuca Rampoldi
Mar 5, 2009·The Journal of Biological Chemistry·Sian T PattersonReinhart A F Reithmeier
Jul 16, 2010·The Journal of Biological Chemistry·Sian T Patterson, Reinhart A F Reithmeier
Nov 2, 2012·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Daniel Batlle, Syed K Haque
Mar 22, 2005·The International Journal of Biochemistry & Cell Biology·Christopher M LaingRobert J Unwin
Mar 15, 2005·Molecular Membrane Biology·Saranya KittanakomReinhart A F Reithmeier
Sep 14, 2010·Biochemical and Biophysical Research Communications·Nunghathai SawasdeePa-Thai Yenchitsomanus
Feb 29, 2008·Blood Cells, Molecules & Diseases·Rosalind C Williamson, Ashley M Toye
Oct 10, 2006·Biochemical and Biophysical Research Communications·Nunghathai SawasdeePa-thai Yenchitsomanus
Apr 10, 2016·Biochimica Et Biophysica Acta·Reinhart A F ReithmeierSo Iwata
May 14, 2004·Annual Review of Biophysics and Biomolecular Structure·Charles R Sanders, Jeffrey K Myers
Nov 24, 2017·The Journal of General Physiology·Emel FiciciLucy R Forrest
Apr 7, 2011·Electrolyte & Blood Pressure : E & BP·Somkiat Vasuvattakul
Jun 29, 2007·Expert Reviews in Molecular Medicine·Tip W Loo, David M Clarke
Mar 12, 2009·Pflügers Archiv : European journal of physiology·Carsten A WagnerNilufar Mohebbi
Apr 21, 2012·Journal of the American Society of Nephrology : JASN·Andrew C FryFiona E Karet Frankl
Apr 6, 2007·Journal of the American Society of Nephrology : JASN·Paul A StehbergerCarsten A Wagner
Nov 3, 2010·The Biochemical Journal·Susan P Bustos, Reinhart A F Reithmeier
Jan 23, 2003·Nature Genetics·Mark A J DevonaldFiona E Karet
Jul 20, 2006·American Journal of Physiology. Renal Physiology·Emmanuelle Cordat, Reinhart A F Reithmeier
Apr 3, 2003·The Journal of Clinical Investigation·Chao-Ling YangDavid H Ellison
Jun 13, 2014·American Journal of Physiology. Cell Physiology·Carmen Y ChuEmmanuelle Cordat
Jul 19, 2017·Blood·Edyta GlogowskaPatrick G Gallagher
Jan 12, 2007·Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire·Emmanuelle Cordat
Mar 17, 2004·Current Opinion in Pediatrics·Julie A Nicoletta, George J Schwartz
Aug 29, 2014·American Journal of Physiology. Renal Physiology·Jianning ZhangOrson W Moe
Aug 19, 2005·The Biochemical Journal·Joanne C CheungReinhart A F Reithmeier
Apr 2, 2011·Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire·Ensaf Y AlmomaniEmmanuelle Cordat
May 17, 2003·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Suchai SritippayawanPa-thai Yenchitsomanus
Dec 10, 2016·Journal of the American Society of Nephrology : JASN·Rizwan MumtazChristian A Hübner
Mar 18, 2016·American Journal of Physiology. Cell Physiology·Ensaf Y AlmomaniEmmanuelle Cordat
Mar 11, 2020·KI Reports·Jean-Philippe BertocchioIsabelle Mouro-Chanteloup
Jul 26, 2002·Journal of the American Society of Nephrology : JASN·Fiona E Karet
Mar 13, 2003·Kidney International·Mohamed RamezPhilippe Gascard

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.