ArticleAmerican journal of physiology. Cell physiology2011
Functional characterization and modified rescue of novel AE1 mutation R730C associated with overhydrated cation leak stomatocytosis.
Article in American journal of physiology. Cell physiology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20 citing papers in PubMed, 35 citations in OpenAlex.
- Molecular determinants of [Formula: see text] and cation transport in the human cation-dependent ClAmerican journal of physiology. Cell physiology · 2025Article
- Substrate binding and inhibition of the anion exchanger 1 transporter.Nature structural & molecular biology · 2023Article
- Cell physiology and molecular mechanism of anion transport by erythrocyte band 3/AE1.American journal of physiology. Cell physiology · 2021Review
- Dehydrated hereditary stomatocytosis: clinical perspectives.Journal of blood medicine · 2019Article
- Red Blood Cell Membrane Conductance in Hereditary Haemolytic Anaemias.Frontiers in physiology · 2019Article
- [The characteristic of hereditary spherocytosis related gene mutation in 37 Chinese hereditary spherocytisis patients].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2018Article
- CryoEM structure of the human SLC4A4 sodium-coupled acid-base transporter NBCe1.Nature communications · 2018Article
- The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells.Frontiers in physiology · 2018Review
- Disorders of erythrocyte hydration.Blood · 2017Review
- Asymmetry of inverted-topology repeats in the AE1 anion exchanger suggests an elevator-like mechanism.The Journal of general physiology · 2017Article
- Loss of kAE1 expression in collecting ducts of end-stage kidneys from a family with SLC4A1 G609R-associated distal renal tubular acidosis.Clinical kidney journal · 2017Article
- Disorders of erythrocyte volume homeostasis.International journal of laboratory hematology · 2015Review
- Structural model of the anion exchanger 1 (SLC4A1) and identification of transmembrane segments forming the transport site.The Journal of biological chemistry · 2013Article
- Substitution of transmembrane domain Cys residues alters pH(o)-sensitive anion transport by AE2/SLC4A2 anion exchanger.Pflugers Archiv : European journal of physiology · 2013Article
- HCO(3)(-)-independent conductance with a mutant Na(+)/HCO(3)(-) cotransporter (SLC4A4) in a case of proximal renal tubular acidosis with hypokalaemic paralysis.The Journal of physiology · 2012Article
- Cation-leak stomatocytosis in standard schnauzers does not cosegregate with coding mutations in the RhAG, SLC4A1, or GLUT1 genes associated with human disease.Blood cells, molecules & diseases · 2012Article
- Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S.American journal of physiology. Cell physiology · 2011Article
- Pendrin function and regulation in Xenopus oocytes.Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology · 2011Article
- Band 3 missense mutations and stomatocytosis: insight into the molecular mechanism responsible for monovalent cation leak.International journal of cell biology · 2011Article
- Identification of multiple substrate binding sites in SLC4 transporters in the outward-facing conformation: Insights into the transport mechanism.The Journal of biological chemistryArticle
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9 authors at 4 institutions in 3 countries.
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Abstract
We report the novel, heterozygous AE1 mutation R730C associated with dominant, overhydrated, cation leak stomatocytosis and well-compensated anemia. Parallel elevations of red blood cell cation leak and ouabain-sensitive Na(+) efflux (pump activity) were apparently unaccompanied by increased erythroid cation channel-like activity, and defined ouabain-insensitive Na(+) efflux pathways of nystatin-treated cells were reduced. Epitope-tagged AE1 R730C at the Xenopus laevis oocyte surface exhibited severely reduced Cl(-) transport insensitive to rescue by glycophorin A (GPA) coexpression or by methanethiosulfonate (MTS) treatment. AE1 mutant R730K preserved Cl(-) transport activity, but R730 substitution with I, E, or H inactivated Cl(-) transport. AE1 R730C expression substantially increased endogenous oocyte Na(+)-K(+)-ATPase-mediated (86)Rb(+) influx, but ouabain-insensitive flux was minimally increased and GPA-insensitive. The reduced AE1 R730C-mediated sulfate influx did not exhibit the wild-type pattern of stimulation by acidic extracellular pH (pH(o)) and, unexpectedly, was partially rescued by exposure to sodium 2-sulfonatoethyl methanethiosulfonate (MTSES) but not to 2-aminoethyl methanethiosulfonate hydrobromide (MTSEA) or 2-(trimethylammonium)ethyl methanethiosulfonate bromide (MTSET). AE1 R730E correspondingly exhibited acid pH(o)-stimulated sulfate uptake at rates exceeding those of wild-type AE1 and AE1 R730K, whereas mutants R730I and R730H were inactive and pH(o) insensitive. MTSES-treated oocytes expressing AE1 R730C and untreated oocytes expressing AE1 R730E also exhibited unprecedented stimulation of Cl(-) influx by acid pH(o). Thus recombinant cation-leak stomatocytosis mutant AE1 R730C exhibits severely reduced anion transport unaccompanied by increased Rb(+) and Li(+) influxes. Selective rescue of acid pH(o)-stimulated sulfate uptake and conferral of acid pH(o)-stimulated Cl(-) influx, by AE1 R730E and MTSES-treated R730C, define residue R730 as critical to selectivity and regulation of anion transport by AE1.
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