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Article

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

American journal of physiology. Cell physiology - 1 Aug 2014

Chu Carmen Y, King Jennifer, Berrini Mattia, Rumley Alina C, Apaja Pirjo M, Lukacs Gergely L, Alexander R Todd, Cordat Emmanuelle

Abstract excerpt

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...

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Share to Anion Exchange Protein 1, Erythrocyte

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Endosomal Sorting Complexes Required for Transport

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Identifiers

PMID: 24920676
DOI: 10.1152/ajpcell.00310.2013

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