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

• Main Authors: Nipaporn Deejai (Author), Nunghathai Sawasdee (Author), Choochai Nettuwakul (Author), Wanchai Wanachiwanawin (Author), Suchai Sritippayawan (Author), Pa-thai Yenchitsomanus (Author), Nanyawan Rungroj (Author)
• Formato: Livro
• Publicado em: BMC, 2022-10-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract 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 abnormalitie...