Literature DB >> 29483102

A Ser725Arg mutation in Band 3 abolishes transport function and leads to anemia and renal tubular acidosis.

Elizabeth Yang1,2,3, Patricia Seo-Mayer1,3, Kimberly Lezon-Geyda4, Katherine E Badior5, Jing Li6, Joseph R Casey5, Reinhart A F Reithmeier6, Patrick G Gallagher4,7.   

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Year:  2018        PMID： 29483102      PMCID： PMC5897869          DOI： 10.1182/blood-2018-01-827725

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


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  23 in total

1.  Measurement of Intracellular pH.

Authors:  Frederick B Loiselle; Joseph R Casey
Journal:  Methods Mol Biol       Date:  2010

Review 2.  Band 3, the human red cell chloride/bicarbonate anion exchanger (AE1, SLC4A1), in a structural context.

Authors:  Reinhart A F Reithmeier; Joseph R Casey; Antreas C Kalli; Mark S P Sansom; Yilmaz Alguel; So Iwata
Journal:  Biochim Biophys Acta       Date:  2016-04-06

3.  Homozygous Southeast Asian ovalocytosis is a severe dyserythropoietic anemia associated with distal renal tubular acidosis.

Authors:  Véronique Picard; Alexis Proust; Marion Eveillard; Joanna F Flatt; Marie-Laure Couec; Gaêlle Caillaux; Madeleine Fénéant-Thibault; Arie Finkelstein; Martine Raphaël; Jean Delaunay; Lesley J Bruce; Serge Pissard; Caroline Thomas
Journal:  Blood       Date:  2014-03-20       Impact factor: 22.113

4.  Defective anion transport and marked spherocytosis with membrane instability caused by hereditary total deficiency of red cell band 3 in cattle due to a nonsense mutation.

Authors:  M Inaba; A Yawata; I Koshino; K Sato; M Takeuchi; Y Takakuwa; S Manno; Y Yawata; A Kanzaki; J Sakai; A Ban; K Ono; Y Maede
Journal:  J Clin Invest       Date:  1996-04-15       Impact factor: 14.808

5.  Distal renal tubular acidosis in mice lacking the AE1 (band3) Cl-/HCO3- exchanger (slc4a1).

Authors:  Paul A Stehberger; Boris E Shmukler; Alan K Stuart-Tilley; Luanne L Peters; Seth L Alper; Carsten A Wagner
Journal:  J Am Soc Nephrol       Date:  2007-04-04       Impact factor: 10.121

6.  Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3.

Authors:  M L Ribeiro; N Alloisio; H Almeida; C Gomes; P Texier; C Lemos; G Mimoso; L Morlé; F Bey-Cabet; R C Rudigoz; J Delaunay; G Tamagnini
Journal:  Blood       Date:  2000-08-15       Impact factor: 22.113

7.  Anion exchanger 1 (band 3) is required to prevent erythrocyte membrane surface loss but not to form the membrane skeleton.

Authors:  L L Peters; R A Shivdasani; S C Liu; M Hanspal; K M John; J M Gonzalez; C Brugnara; B Gwynn; N Mohandas; S L Alper; S H Orkin; S E Lux
Journal:  Cell       Date:  1996-09-20       Impact factor: 41.582

8.  Hemolytic anemia and distal renal tubular acidosis in two Indian patients homozygous for SLC4A1/AE1 mutation A858D.

Authors:  Boris E Shmukler; Prabhakar S Kedar; Prashant Warang; Mukesh Desai; Manisha Madkaikar; Kanjaksha Ghosh; Roshan B Colah; Seth L Alper
Journal:  Am J Hematol       Date:  2010-10       Impact factor: 10.047

9.  Chemical modification and labeling of glutamate residues at the stilbenedisulfonate site of human red blood cell band 3 protein.

Authors:  M L Jennings; M P Anderson
Journal:  J Biol Chem       Date:  1987-02-05       Impact factor: 5.157

10.  Band 3 nullVIENNA , a novel homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis.

Authors:  Leo Kager; Lesley J Bruce; Petra Zeitlhofer; Joanna F Flatt; Tabita M Maia; M Leticia Ribeiro; Bernhard Fahrner; Gerhard Fritsch; Kaan Boztug; Oskar A Haas
Journal:  Pediatr Blood Cancer       Date:  2016-10-08       Impact factor: 3.167
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  2 in total

Review 1.  Heteromeric Solute Carriers: Function, Structure, Pathology and Pharmacology.

Authors:  Stephen J Fairweather; Nishank Shah; Stefan Brӧer
Journal:  Adv Exp Med Biol       Date:  2021       Impact factor: 2.622

Review 2.  Cell physiology and molecular mechanism of anion transport by erythrocyte band 3/AE1.

Authors:  Michael L Jennings
Journal:  Am J Physiol Cell Physiol       Date:  2021-10-20       Impact factor: 4.249
  2 in total

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