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Functional Rescue of a Kidney Anion Exchanger 1 Trafficking Mutant in Renal Epithelial Cells

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...

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Detalles Bibliográficos
Autores principales: Chu, Carmen Y. S., King, Jennifer C., Berrini, Mattia, Alexander, R. Todd, Cordat, Emmanuelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3584104/
https://www.ncbi.nlm.nih.gov/pubmed/23460825
http://dx.doi.org/10.1371/journal.pone.0057062