Hereditary spherocytosis is associated with decreased pyruvate kinase activity due to impaired structural integrity of the red blood cell membrane

2019 ◽  
Vol 187 (3) ◽  
pp. 386-395 ◽  
Author(s):  
Oliver Andres ◽  
Felicia Loewecke ◽  
Henner Morbach ◽  
Sabrina Kraus ◽  
Hermann Einsele ◽  
...  
Keyword(s):  
Cell Membrane ◽  
Blood Cell ◽  
Pyruvate Kinase ◽  
Red Blood Cell ◽  
Kinase Activity ◽  
Structural Integrity ◽  
Hereditary Spherocytosis ◽  
Pyruvate Kinase Activity ◽  
Red Blood Cell Membrane

Red blood cell age, pyruvate kinase activity, and insulin receptors. Evidence that monocytes and RBCs may behave differently

Diabetes ◽  
1983 ◽  
Vol 32 (11) ◽  
pp. 1017-1022 ◽  
Author(s):  
A. Camagna ◽  
R. De Pirro ◽  
L. Tardella ◽  
L. Rossetti ◽  
R. Lauro ◽  
...  
Keyword(s):  
Blood Cell ◽  
Pyruvate Kinase ◽  
Red Blood Cell ◽  
Kinase Activity ◽  
Insulin Receptors ◽  
Pyruvate Kinase Activity ◽  
Cell Age

Red Blood Cell Age, Pyruvate Kinase Activity, and Insulin Receptors: Evidence that Monocytes and RBCs May Behave Differently

Diabetes ◽  
1983 ◽  
Vol 32 (11) ◽  
pp. 1017-1022 ◽  
Author(s):  
A. Camagna ◽  
R. D. Pirro ◽  
L. Tardella ◽  
L. Rossetti ◽  
R. Lauro ◽  
...  
Keyword(s):  
Blood Cell ◽  
Pyruvate Kinase ◽  
Red Blood Cell ◽  
Kinase Activity ◽  
Insulin Receptors ◽  
Pyruvate Kinase Activity ◽  
Cell Age

Osmotic gradient ektacytometry: A valuable screening test for hereditary spherocytosis and other red blood cell membrane disorders

2017 ◽  
Vol 40 (1) ◽  
pp. 94-102 ◽  
Author(s):  
E. Llaudet-Planas ◽  
J. L. Vives-Corrons ◽  
V. Rizzuto ◽  
P. Gómez-Ramírez ◽  
J. Sevilla Navarro ◽  
...  
Keyword(s):  
Cell Membrane ◽  
Blood Cell ◽  
Red Blood Cell ◽  
Screening Test ◽  
Hereditary Spherocytosis ◽  
Osmotic Gradient ◽  
Red Blood Cell Membrane

scholarly journals Mutations of conserved arginines in the membrane domain of erythroid band 3 lead to a decrease in membrane-associated band 3 and to the phenotype of hereditary spherocytosis

Blood ◽  
1995 ◽  
Vol 85 (3) ◽  
pp. 634-640 ◽  
Author(s):  
P Jarolim ◽  
HL Rubin ◽  
V Brabec ◽  
L Chrobak ◽  
AS Zolotarev ◽  
...  
Keyword(s):  
Cell Membrane ◽  
Blood Cell ◽  
Red Blood Cell ◽  
Hereditary Spherocytosis ◽  
Single Strand Conformation Polymorphism ◽  
Band 3 ◽  
Protein Product ◽  
Mutant Protein ◽  
Red Blood Cell Membrane ◽  
Conformation Polymorphism

To elucidate the molecular basis of band 3 deficiency in a recently defined subset of patients with autosomal dominant hereditary spherocytosis (HS), we screened band 3 cDNA for single-strand conformation polymorphism (SSCP). In 5 of 17 (29%) unrelated HS subjects with band 3 deficiency, we detected substitutions R760W, R760Q, R808C, and R870W that were all coinherited with the HS phenotype. The involved arginines are highly conserved throughout evolution. To examine whether or not the product of the mutant allele is inserted into the membrane, we studied one HS subject who was doubly heterozygous for the R760Q mutation and the K56E (band 3sMEMPHIS) polymorphism that results in altered electrophoretic mobility of the band 3 Memphis proteolytic fragments. We detected only the band 3MEMPHIS in the erythrocyte membrane indicating that the protein product of the mutant, R760Q, band 3 allele is absent from the red blood cell membrane. These findings suggest that the R760Q substitution, and probably the other arginine subsitutions, produce band 3 deficiency either by precluding incorporation of the mutant protein into the red blood cell membrane or by leading to loss of mutant protein from differentiating erythroid precursors.

Band 3Tambau: a de novo mutation in the AE1 gene associated with hereditary spherocytosis. Implications for anion exchange and insertion into the red blood cell membrane

2005 ◽  
Vol 74 (5) ◽  
pp. 396-401 ◽  
Author(s):  
Paulo Roberto Moura Lima ◽  
Mariana Ozello Baratti ◽  
Maria Lucia Chiattone ◽  
Fernando Ferreira Costa ◽  
Sara Teresinha Olalla Saad
Keyword(s):  
Cell Membrane ◽  
Blood Cell ◽  
Anion Exchange ◽  
Red Blood Cell ◽  
De Novo ◽  
Hereditary Spherocytosis ◽  
De Novo Mutation ◽  
Red Blood Cell Membrane
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