Impaired trafficking and instability of mutant kidney anion exchanger 1 proteins associated with autosomal recessive distal renal tubular acidosis

BACKGROUND: Mutations in solute carrier family 4 member 1 (SLC4A1) encoding anion exchanger 1 (AE1) are the most common cause of autosomal recessive distal renal tubular acidosis (AR dRTA) in Southeast Asians. To explain the molecular mechanism of this disease with hematological abnormalities in an...

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Detalles Bibliográficos
Autores principales: Deejai, Nipaporn, Sawasdee, Nunghathai, Nettuwakul, Choochai, Wanachiwanawin, Wanchai, Sritippayawan, Suchai, Yenchitsomanus, Pa-thai, Rungroj, Nanyawan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9623938/
https://www.ncbi.nlm.nih.gov/pubmed/36320073
http://dx.doi.org/10.1186/s12920-022-01381-y

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