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Article

Dominant and recessive distal renal tubular acidosis mutations of kidney anion exchanger 1 induce distinct trafficking defects in MDCK cells.

Traffic (Copenhagen, Denmark) - 1 Feb 2006

Cordat Emmanuelle, Kittanakom Saranya, Yenchitsomanus Pa-Thai, Li Jing, Du Kai, Lukacs Gergely L, Reithmeier Reinhart A F

Abstract excerpt

Distal renal tubular acidosis (dRTA), a kidney disease resulting in defective urinary acidification, can be caused by dominant or recessive mutations in the kidney Cl-/HCO3- anion exchanger (kAE1), a glycoprotein expressed in the basolateral membrane of alpha-intercalated cells. We compared the effect of two dominant (R589H and S613F) and two recessive (S773P and G701D) dRTA point mutations on kAE1 trafficking in...

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Share to Acidosis, Renal Tubular
Share to Anion Exchange Protein 1, Erythrocyte

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Endoplasmic Reticulum

Share to Genes, Recessive

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Share to Kidney Tubules, Distal

Source

Identifiers

PMID: 16420521
DOI: 10.1111/j.1600-0854.2005.00366.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Dominant and recessive distal renal tubular acidosis mutations of kidney anion exchanger 1 induce distinct trafficking defects in MDCK cells.PMID 16420521Read ↗

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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).Semantic proximity Read ↗

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γ-COPI mediates the retention of kAE1 G701D protein in Golgi apparatus - a mechanistic explanation of distal renal tubular acidosis associated with the G701D mutation.Semantic proximity Read ↗

Mutation conferring apical-targeting motif on AE1 exchanger causes autosomal dominant distal RTA.Semantic proximity Read ↗

Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis.Semantic proximity Read ↗

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