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Article

Functional rescue of a kidney anion exchanger 1 trafficking mutant in renal epithelial cells.

PloS one - 1 Jan 2013

Chu Carmen Y S, King Jennifer C, Berrini Mattia, Alexander R Todd, Cordat Emmanuelle

Abstract excerpt

Mutations in the SLC4A1 gene encoding the anion exchanger 1 (AE1) can cause distal renal tubular acidosis (dRTA), a disease often due to mis-trafficking of the mutant protein. In this study, we investigated whether trafficking of a Golgi-retained dRTA mutant, G701D kAE1, or two dRTA mutants retained in the endoplasmic reticulum, C479W and R589H kAE1, could be functionally rescued to the plasma membrane of...

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Identifiers

PMID: 23460825
DOI: 10.1371/journal.pone.0057062
PMCID: PMC3584104

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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