Literature DB >> 12539048

Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis.

Mark A J Devonald1, Annabel N Smith, Jenny P Poon, Gudrun Ihrke, Fiona E Karet.   

Abstract

Autosomal dominant distal renal tubular acidosis (ddRTA) is caused by mutations in SLC4A1, which encodes the polytopic chloride-bicarbonate exchanger AE1 that is normally expressed at the basolateral surface of alpha-intercalated cells in the distal nephron. Here we report that, in contrast with many disorders in which mutant membrane proteins are retained intracellularly and degraded, ddRTA can result from aberrant targeting of AE1 to the apical surface.

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Year:  2003        PMID： 12539048     DOI： 10.1038/ng1082

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  35 in total

1.  Mutation conferring apical-targeting motif on AE1 exchanger causes autosomal dominant distal RTA.

Authors:  Andrew C Fry; Ya Su; Vivian Yiu; Alan W Cuthbert; Howard Trachtman; Fiona E Karet Frankl
Journal:  J Am Soc Nephrol       Date:  2012-04-19       Impact factor: 10.121

2.  Cell surface rescue of kidney anion exchanger 1 mutants by disruption of chaperone interactions.

Authors:  Sian T Patterson; Reinhart A F Reithmeier
Journal:  J Biol Chem       Date:  2010-07-13       Impact factor: 5.157

Review 3.  Ammonia Transporters and Their Role in Acid-Base Balance.

Authors:  I David Weiner; Jill W Verlander
Journal:  Physiol Rev       Date:  2017-04       Impact factor: 37.312

Review 4.  Kidney stone disease.

Authors:  Fredric L Coe; Andrew Evan; Elaine Worcester
Journal:  J Clin Invest       Date:  2005-10       Impact factor: 14.808

5.  The role of aspartic acid residues 405 and 416 of the kidney isotype of sodium-bicarbonate cotransporter 1 in its targeting to the plasma membrane.

Authors:  Hong C Li; Volodymyr Kucher; Emily Y Li; Laura Conforti; Kamyar A Zahedi; Manoocher Soleimani
Journal:  Am J Physiol Cell Physiol       Date:  2012-03-21       Impact factor: 4.249

6.  Identification of dominant negative effect of L522P mutation in the electrogenic Na⁺-HCO₃⁻ cotransporter NBCe1.

Authors:  Osamu Yamazaki; Hideomi Yamada; Masashi Suzuki; Shoko Horita; Ayumi Shirai; Motonobu Nakamura; Nobuhiko Satoh; Toshiro Fujita; George Seki
Journal:  Pflugers Arch       Date:  2013-04-05       Impact factor: 3.657

7.  Trafficking defects of the Southeast Asian ovalocytosis deletion mutant of anion exchanger 1 membrane proteins.

Authors:  Joanne C Cheung; Emmanuelle Cordat; Reinhart A F Reithmeier
Journal:  Biochem J       Date:  2005-12-15       Impact factor: 3.857

8.  Sequence- or position-specific mutations in the carboxyl-terminal FL motif of the kidney sodium bicarbonate cotransporter (NBC1) disrupt its basolateral targeting and alpha-helical structure.

Authors:  Hong C Li; Joel H Collier; Ali Shawki; Jai S Rudra; Emily Y Li; Bryan Mackenzie; Manoocher Soleimani
Journal:  J Membr Biol       Date:  2009-03-18       Impact factor: 1.843

Review 9.  Molecular physiology and genetics of Na+-independent SLC4 anion exchangers.

Authors:  Seth L Alper
Journal:  J Exp Biol       Date:  2009-06       Impact factor: 3.312

10.  Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations.

Authors:  Pa-Thai Yenchitsomanus; Saranya Kittanakom; Nanyawan Rungroj; Emmanuelle Cordat; Reinhart A F Reithmeier
Journal:  J Mol Genet Med       Date:  2005-11-16
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