Associated Papers
Mutations and clinical characteristics of dRTA caused by SLC4A1 mutations: Analysis based on published patients.
Yang M et al.
Frontiers in Pediatrics, 2023
A novel SLC4A1 mutation in a child with hereditary spherocytosis and distal renal tubular acidosis.
Giovanni Raimondo P et al.
Pediatric Blood & Cancer, 2022
Molecular Simulations of Intact Anion Exchanger 1 Reveal Specific Domain and Lipid Interactions.
De Vecchis D et al.
Biophysical Journal, 2019
Treatment and long-term outcome in primary distal renal tubular acidosis.
Lopez-Garcia SC et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2019
Molecular Diagnosis of Solute Carrier Family 4 Member 1 (SLC4A1) Mutation-Related Autosomal Recessive Distal Renal Tubular Acidosis.
Deejai N et al.
Laboratory Medicine, 2019
A Family with Autosomal Dominant Distal Renal Tubular Acidosis Presents with Atypical Phenotype Caused by a Missence Mutation (R388C) of the Human Kidney Anion Exchanger.
Wang D et al.
Nephron, 2019
Hypokalemic Distal Renal Tubular Acidosis.
Vallés PG et al.
Advances in Chronic Kidney Disease, 2018
Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead.
Watanabe T
Pediatric Health, Medicine and Therapeutics, 2018
Asymmetry of inverted-topology repeats in the AE1 anion exchanger suggests an elevator-like mechanism.
Ficici E et al.
The Journal of General Physiology, 2017
New Findings on the Pathogenesis of Distal Renal Tubular Acidosis.
Trepiccione F et al.
Kidney Diseases (basel, Switzerland), 2017
Loss of kAE1 expression in collecting ducts of end-stage kidneys from a family with SLC4A1 G609R-associated distal renal tubular acidosis.
Vichot AA et al.
Clinical Kidney Journal, 2017
Band 3, the human red cell chloride/bicarbonate anion exchanger (AE1, SLC4A1), in a structural context.
Reithmeier RA et al.
Biochimica Et Biophysica Acta, 2016
A novel mutation pattern of kidney anion exchanger 1 gene in patients with distal renal tubular acidosis in Iran.
Hooman N et al.
Iranian Journal of Kidney Diseases, 2015
Protein trafficking defects in inherited kidney diseases.
Schaeffer C et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2014
Structural model of the anion exchanger 1 (SLC4A1) and identification of transmembrane segments forming the transport site.
Barneaud-Rocca D et al.
The Journal of Biological Chemistry, 2013
Three-dimensional model for the human Cl-/HCO3- exchanger, AE1, by homology to the E. coli ClC protein.
Bonar P et al.
Journal of Molecular Biology, 2013
Deleterious nonsynonymous single nucleotide polymorphisms in human solute carriers: the first comparison of three prediction methods.
Hao DC et al.
European Journal of Drug Metabolism and Pharmacokinetics, 2013
Functional rescue of a kidney anion exchanger 1 trafficking mutant in renal epithelial cells.
Chu CY et al.
Plos One, 2013
Genetic causes and mechanisms of distal renal tubular acidosis.
Batlle D et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2012
Tropical distal renal tubular acidosis: clinical and epidemiological studies in 78 patients.
Khositseth S et al.
Qjm : Monthly Journal of the Association of Physicians, 2012
Mutation conferring apical-targeting motif on AE1 exchanger causes autosomal dominant distal RTA.
Fry AC et al.
Journal of the American Society of Nephrology : Jasn, 2012
South-east Asian ovalocytosis and the cryohydrocytosis form of hereditary stomatocytosis show virtually indistinguishable cation permeability defects.
Guizouarn H et al.
British Journal of Haematology, 2011
Band 3 Edmonton I, a novel mutant of the anion exchanger 1 causing spherocytosis and distal renal tubular acidosis.
Chu C et al.
The Biochemical Journal, 2010
Molecular physiology and genetics of Na+-independent SLC4 anion exchangers.
Alper SL
The Journal of Experimental Biology, 2009
Southeast Asian AE1 associated renal tubular acidosis: cation leak is a class effect.
Walsh S et al.
Biochemical and Biophysical Research Communications, 2009
Review. Leaky Cl--HCO3- exchangers: cation fluxes via modified AE1.
Ellory JC et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2009
Cation transport activity of anion exchanger 1 mutations found in inherited distal renal tubular acidosis.
Walsh S et al.
American Journal of Physiology. Renal Physiology, 2008
Band 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A.
Toye AM et al.
Blood, 2008
When proton pumps go sour: Urinary acidification and kidney stones.
Wagner CA
Kidney International, 2008
Dominant-negative effect of Southeast Asian ovalocytosis anion exchanger 1 in compound heterozygous distal renal tubular acidosis.
Kittanakom S et al.
The Biochemical Journal, 2008
Interaction of integrin-linked kinase with the kidney chloride/bicarbonate exchanger, kAE1.
Keskanokwong T et al.
The Journal of Biological Chemistry, 2007
Distal renal tubular acidosis associated with anion exchanger 1 mutations in children in Thailand.
Khositseth S et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2007
Immunohistochemical comparison of a case of inherited distal renal tubular acidosis (with a unique AE1 mutation) with an acquired case secondary to autoimmune disease.
Walsh S et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2007
The molecular basis of hereditary red cell membrane disorders.
Delaunay J
Blood Reviews, 2007
Expression and interaction of two compound heterozygous distal renal tubular acidosis mutants of kidney anion exchanger 1 in epithelial cells.
Cordat E et al.
American Journal of Physiology. Renal Physiology, 2006
Unraveling trafficking of the kidney anion exchanger 1 in polarized MDCK epithelial cells.
Cordat E
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2006
SLC4 base (HCO3 -, CO3 2-) transporters: classification, function, structure, genetic diseases, and knockout models.
Pushkin A et al.
American Journal of Physiology. Renal Physiology, 2006
Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations.
Yenchitsomanus PT et al.
Journal of Molecular and Genetic Medicine : an International Journal of Biomedical Research, 2005
Renal tubular acidosis: developments in our understanding of the molecular basis.
Laing CM et al.
The International Journal of Biochemistry & Cell Biology, 2005
Defective kidney anion-exchanger 1 (AE1, Band 3) trafficking in dominant distal renal tubular acidosis (dRTA).
Toye AM
Biochemical Society Symposium, 2005
Trafficking defects of a novel autosomal recessive distal renal tubular acidosis mutant (S773P) of the human kidney anion exchanger (kAE1).
Kittanakom S et al.
The Journal of Biological Chemistry, 2004
Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis.
Sritippayawan S et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2004
A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells.
Rungroj N et al.
The Journal of Biological Chemistry, 2004
Distal renal tubular acidosis.
Nicoletta JA et al.
Current Opinion in Pediatrics, 2004
Regions of human kidney anion exchanger 1 (kAE1) required for basolateral targeting of kAE1 in polarised kidney cells: mis-targeting explains dominant renal tubular acidosis (dRTA).
Toye AM et al.
Journal of Cell Science, 2004
Defects in processing and trafficking of the AE1 Cl-/HCO3- exchanger associated with inherited distal renal tubular acidosis.
Shayakul C et al.
Clinical and Experimental Nephrology, 2004
Human anion exchanger1 mutations and distal renal tubular acidosis.
Yenchitsomanus PT
The Southeast Asian Journal of Tropical Medicine and Public Health, 2003
A de novo R589C mutation of anion exchanger 1 causing distal renal tubular acidosis.
Sritippayawan S et al.
Pediatric Nephrology (berlin, Germany), 2003