Associated Papers
Identification of novel variants in hereditary spherocytosis patients by whole-exome sequencing.
Qin L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
Clinical characteristics of hereditary spherocytosis with red blood cell membrane protein gene variants.
Cheng J et al.
Frontiers in Pediatrics, 2025
An erythrocyte-centric view on the MFSD2B sphingosine-1-phosphate transporter.
Ghaderi S et al.
Pharmacology & Therapeutics, 2023
Borate Transporters and SLC4 Bicarbonate Transporters Share Key Functional Properties.
Beltran JL et al.
Membranes, 2023
Effect of primary lesions in cytoskeleton proteins on red cell membrane stability in patients with hereditary spherocytosis.
Vercellati C et al.
Frontiers in Physiology, 2022
Cell physiology and molecular mechanism of anion transport by erythrocyte band 3/AE1.
Jennings ML
American Journal of Physiology. Cell Physiology, 2021
Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.
Fermo E et al.
Frontiers in Physiology, 2021
Exome sequencing for diagnosis of congenital hemolytic anemia.
Mansour-Hendili L et al.
Orphanet Journal of Rare Diseases, 2020
The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells.
Flatt JF et al.
Frontiers in Physiology, 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
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
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
Hereditary spherocytosis due to band 3 deficiency: 15 novel mutations in SLC4A1.
Van Zwieten R et al.
American Journal of Hematology, 2013
A Swiss (εγδβ)⁰-thalassemia patient with a novel 3-Mb deletion associated with mild mental impairment.
Von Kanel T et al.
American Journal of Hematology, 2013
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
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 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
The GPA-dependent, spherostomatocytosis mutant AE1 E758K induces GPA-independent, endogenous cation transport in amphibian oocytes.
Stewart AK et al.
American Journal of Physiology. Cell Physiology, 2010
Interaction of anion exchanger 1 and glycophorin A in human erythroleukaemic K562 cells.
Pang AJ et al.
The Biochemical Journal, 2009
Loss of specific chaperones involved in membrane glycoprotein biosynthesis during the maturation of human erythroid progenitor cells.
Patterson ST et al.
The Journal of Biological Chemistry, 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
The molecular basis of hereditary red cell membrane disorders.
Delaunay J
Blood Reviews, 2007
Ubiquitylation-independent ER-associated degradation of an AE1 mutant associated with dominant hereditary spherocytosis in cattle.
Ito D et al.
Journal of Cell Science, 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
Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1.
Bruce LJ et al.
Nature Genetics, 2005
Trafficking and folding defects in hereditary spherocytosis mutants of the human red cell anion exchanger.
Quilty JA et al.
Traffic (copenhagen, Denmark), 2000
Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis.
Alloisio N et al.
Blood, 1997
Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency.
Jarolim P et al.
Blood, 1996
[Recent data on the molecular pathology of hereditary spherocytosis].
Dhermy D
Nouvelle Revue Francaise D'hematologie, 1993
The red blood cell band 3 variant (band 3Biceêtrel:R490C) associated with dominant hereditary spherocytosis causes defective membrane targeting of the molecule and a dominant negative effect.
Dhermy D et al.
Molecular Membrane Biology, 0
Mutations in band 3 and cation leaky red cells.
Bruce L
Blood Cells, Molecules & Diseases, 0
Hereditary stomatocytosis and cation-leaky red cells--recent developments.
Bruce LJ
Blood Cells, Molecules & Diseases, 0