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

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

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

Impaired trafficking and intracellular retention of mutant kidney anion exchanger 1 proteins (G701D and A858D) associated with distal renal tubular acidosis

2010 ◽  
Vol 27 (2-3) ◽  
pp. 92-103 ◽  
Author(s):  
Duangporn Ungsupravate ◽  
Nunghathai Sawasdee ◽  
Sookkasem Khositseth ◽  
Wandee Udomchaiprasertkul ◽  
Siri Khoprasert ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Anion Exchanger ◽  
Distal Renal Tubular Acidosis ◽  
Anion Exchanger 1 ◽  
Renal Tubular

Degradation mechanism of a Golgi-retained distal renal tubular acidosis mutant of the kidney anion exchanger 1 in renal cells

2014 ◽  
Vol 307 (3) ◽  
pp. C296-C307 ◽  
Author(s):  
Carmen Y. Chu ◽  
Jennifer King ◽  
Mattia Berrini ◽  
Alina C. Rumley ◽  
Pirjo M. Apaja ◽  
...  
Keyword(s):  
Quality Control ◽  
Renal Tubular Acidosis ◽  
Anion Exchanger ◽  
Mammalian Cells ◽  
Degradation Mechanism ◽  
Basolateral Membrane ◽  
Distal Renal Tubular Acidosis ◽  
Anion Exchanger 1 ◽  
Chemical Chaperone ◽  
Renal Tubular

Distal renal tubular acidosis (dRTA) can be caused by mutations in the SLC4A1 gene encoding the anion exchanger 1 (AE1). Both recessive and dominant mutations result in mistrafficking of proteins, preventing them from reaching the basolateral membrane of renal epithelial cells, where their function is needed. In this study, we show that two dRTA mutants are prematurely degraded. Therefore, we investigated the degradation pathway of the kidney AE1 G701D mutant that is retained in the Golgi. Little is known about degradation of nonnative membrane proteins from the Golgi compartments in mammalian cells. We show that the kidney AE1 G701D mutant is polyubiquitylated and degraded by the lysosome and the proteosome. This mutant reaches the plasma membrane, where it is endocytosed and degraded by the lysosome via a mechanism dependent on the peripheral quality control machinery. Furthermore, we show that the function of the mutant is rescued at the cell surface upon inhibition of the lysosome and incubation with a chemical chaperone. We conclude that modulating the peripheral quality control machinery may provide a novel therapeutic option for treatment of patients with dRTA due to a Golgi-retained mutant.

Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene

2002 ◽  
Vol 40 (1) ◽  
pp. 21-29 ◽  
Author(s):  
Pa-thai Yenchitsomanus ◽  
Somkiat Vasuvattakul ◽  
Sukachart Kirdpon ◽  
Sirijitta Wasanawatana ◽  
Wattanachai Susaengrat ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Anion Exchanger ◽  
Autosomal Recessive ◽  
Distal Renal Tubular Acidosis ◽  
Anion Exchanger 1 ◽  
Renal Tubular
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