scholarly journals Regions of human kidney anion exchanger 1 (kAE1) required for basolateral targeting of kAE1 in polarised kidney cells: mis-targeting explains dominant renal tubular acidosis (dRTA)

2004 ◽  
Vol 117 (8) ◽  
pp. 1399-1410 ◽  
Author(s):  
A. M. Toye
Keyword(s):  
Renal Tubular Acidosis ◽  
Anion Exchanger ◽  
Human Kidney ◽  
Kidney Cells ◽  
Anion Exchanger 1 ◽  
Renal Tubular ◽  
Basolateral Targeting

Band 3 Edmonton I, a novel mutant of the anion exchanger 1 causing spherocytosis and distal renal tubular acidosis

2010 ◽  
Vol 426 (3) ◽  
pp. 379-388 ◽  
Author(s):  
Carmen Chu ◽  
Naomi Woods ◽  
Nunghathai Sawasdee ◽  
Helene Guizouarn ◽  
Bernard Pellissier ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Anion Exchanger ◽  
Failure To Thrive ◽  
Renal Stones ◽  
Band 3 ◽  
Distal Renal Tubular Acidosis ◽  
Kidney Cells ◽  
Gene Encoding ◽  
Anion Exchanger 1 ◽  
Renal Tubular

dRTA (distal renal tubular acidosis) and HS (hereditary spherocytosis) are two diseases that can be caused by mutations in the gene encoding the AE1 (anion exchanger 1; Band 3). dRTA is characterized by defective urinary acidification, leading to metabolic acidosis, renal stones and failure to thrive. HS results in anaemia, which may require regular blood transfusions and splenectomy. Mutations in the gene encoding AE1 rarely cause both HS and dRTA. In the present paper, we describe a novel AE1 mutation, Band 3 Edmonton I, which causes dominant HS and recessive dRTA. The patient is a compound heterozygote with the new mutation C479W and the previously described mutation G701D. Red blood cells from the patient presented a reduced amount of AE1. Expression in a kidney cell line showed that kAE1 (kidney AE1) C479W is retained intracellularly. As kAE1 is a dimer, we performed co-expression studies and found that, in kidney cells, kAE1 C479W and G701D proteins traffic independently from each other despite their ability to form heterodimers. Therefore the patient carries one kAE1 mutant that is retained in the Golgi (G701D) and another kAE1 mutant (C479W) located in the endoplasmic reticulum of kidney cells, and is thus probably unable to reabsorb bicarbonate into the blood. We conclude that the C479W mutant is a novel trafficking mutant of AE1, which causes HS due to a decreased cell-surface AE1 protein and results in dRTA due to its intracellular retention in kidney.

A Novel Mutation in the Anion Exchanger 1 Gene Is Associated With Familial Distal Renal Tubular Acidosis and Nephrocalcinosis

PEDIATRICS ◽  
2003 ◽  
Vol 112 (6) ◽  
pp. 1361-1367 ◽  
Author(s):  
L. Cheidde ◽  
T. C. Vieira ◽  
P. R. M. Lima ◽  
S. T. O. Saad ◽  
I. P. Heilberg
Keyword(s):  
Renal Tubular Acidosis ◽  
Anion Exchanger ◽  
Novel Mutation ◽  
Distal Renal Tubular Acidosis ◽  
Anion Exchanger 1 ◽  
Renal Tubular

Dominant and Recessive Distal Renal Tubular Acidosis Mutations of Kidney Anion Exchanger 1 Induce Distinct Trafficking Defects in MDCK Cells

Traffic ◽  
2005 ◽  
Vol 7 (2) ◽  
pp. 117-128 ◽  
Author(s):  
Emmanuelle Cordat ◽  
Saranya Kittanakom ◽  
Pa-thai Yenchitsomanus ◽  
Jing Li ◽  
Kai Du ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Anion Exchanger ◽  
Mdck Cells ◽  
Distal Renal Tubular Acidosis ◽  
Anion Exchanger 1 ◽  
Trafficking Defects ◽  
Renal Tubular

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

2002 ◽  
Vol 282 (5) ◽  
pp. F810-F820 ◽  
Author(s):  
Janne A. Quilty ◽  
Jing Li ◽  
Reinhart A. Reithmeier
Keyword(s):  
Cell Surface ◽  
Renal Tubular Acidosis ◽  
Anion Exchanger ◽  
Human Kidney ◽  
Distal Renal Tubular Acidosis ◽  
Dominant Negative ◽  
Cell Surface Expression ◽  
Dominant Negative Effect ◽  
Inherited Disease ◽  
Renal Tubular

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.

Trafficking defect of mutant kidney anion exchanger 1 (kAE1) proteins associated with distal renal tubular acidosis and Southeast Asian ovalocytosis

2006 ◽  
Vol 350 (3) ◽  
pp. 723-730 ◽  
Author(s):  
Nunghathai Sawasdee ◽  
Wandee Udomchaiprasertkul ◽  
Sansanee Noisakran ◽  
Nanyawan Rungroj ◽  
Varaporn Akkarapatumwong ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Anion Exchanger ◽  
Southeast Asian ◽  
Distal Renal Tubular Acidosis ◽  
Anion Exchanger 1 ◽  
Renal Tubular

scholarly journals Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population

2003 ◽  
Vol 48 (9) ◽  
pp. 451-456 ◽  
Author(s):  
Pa-thai Yenchitsomanus ◽  
Nunghathai Sawasdee ◽  
Atchara Paemanee ◽  
Thitima Keskanokwong ◽  
Somkiat Vasuvattakul ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Anion Exchanger ◽  
Distal Renal Tubular Acidosis ◽  
Thai Population ◽  
Anion Exchanger 1 ◽  
Renal Tubular

Distal Renal Tubular Acidosis Associated With Anion Exchanger 1 Mutations in Children in Thailand

2007 ◽  
Vol 49 (6) ◽  
pp. 841-850.e1 ◽  
Author(s):  
Sookkasem Khositseth ◽  
Apiwan Sirikanerat ◽  
Kulruedee Wongbenjarat ◽  
Sauwalak Opastirakul ◽  
Siri Khoprasert ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Anion Exchanger ◽  
Distal Renal Tubular Acidosis ◽  
Anion Exchanger 1 ◽  
Renal Tubular

scholarly journals Compound mutations in human anion exchanger 1 are associated with complete distal renal tubular acidosis and hereditary spherocytosis

2009 ◽  
Vol 76 (7) ◽  
pp. 774-783 ◽  
Author(s):  
Yu-Hsiang Chang ◽  
Chen-Fu Shaw ◽  
Shu-Huei Jian ◽  
Kai-Hsien Hsieh ◽  
Yee-Hsuan Chiou ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Anion Exchanger ◽  
Hereditary Spherocytosis ◽  
Distal Renal Tubular Acidosis ◽  
Anion Exchanger 1 ◽  
Renal Tubular

scholarly journals Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family

2015 ◽  
Vol 4 (2) ◽  
pp. 218-222 ◽  
Author(s):  
Naoko Ito ◽  
Kenji Ihara ◽  
Tomohiro Kamoda ◽  
Satoshi Akamine ◽  
Kentaro Kamezaki ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Anion Exchanger ◽  
Autosomal Dominant ◽  
Distal Renal Tubular Acidosis ◽  
Japanese Family ◽  
Anion Exchanger 1 ◽  
Renal Tubular
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