Associated Papers
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT et al.
Genome Medicine, 2023
Substrate binding and inhibition of the anion exchanger 1 transporter.
Capper MJ et al.
Nature Structural & Molecular Biology, 2023
An erythrocyte-centric view on the MFSD2B sphingosine-1-phosphate transporter.
Ghaderi S et al.
Pharmacology & Therapeutics, 2023
Overhydrated hereditary stomatocytosis: A rare cause of familiar persistent macrocytosis due to SLC4A1 variants.
Marcello AP et al.
Pediatric Blood & Cancer, 2023
Cell physiology and molecular mechanism of anion transport by erythrocyte band 3/AE1.
Jennings ML
American Journal of Physiology. Cell Physiology, 2021
The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells.
Flatt JF et al.
Frontiers in Physiology, 2018
Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling.
Rapp C et al.
Biochimica Et Biophysica Acta. Biomembranes, 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
Crystal structure of the anion exchanger domain of human erythrocyte band 3.
Arakawa T et al.
Science (new York, N.y.), 2015
Rapid Cl⁻/HCO⁻₃exchange kinetics of AE1 in HEK293 cells and hereditary stomatocytosis red blood cells.
Frumence E et al.
American Journal of Physiology. Cell Physiology, 2013
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
Substitution of transmembrane domain Cys residues alters pH(o)-sensitive anion transport by AE2/SLC4A2 anion exchanger.
Reimold FR et al.
Pflugers Archiv : European Journal of Physiology, 2013
Cation-leak stomatocytosis in standard schnauzers does not cosegregate with coding mutations in the RhAG, SLC4A1, or GLUT1 genes associated with human disease.
Shmukler BE et al.
Blood Cells, Molecules & Diseases, 2012
Functional characterization and modified rescue of novel AE1 mutation R730C associated with overhydrated cation leak stomatocytosis.
Stewart AK et al.
American Journal of Physiology. Cell Physiology, 2011
Band 3 missense mutations and stomatocytosis: insight into the molecular mechanism responsible for monovalent cation leak.
Barneaud-Rocca D et al.
International Journal of Cell Biology, 2011