Unraveling the structural and functional features of an aldolase A mutant involved in the hemolytic anemia and severe rhabdomyolysis reported in a child
Unraveling the structural and functional features of an aldolase A mutant involved in the hemolytic anemia and severe rhabdomyolysis reported in a child(470 views) Esposito G, Vitagliano L, Cevenini A, Amelio T, Zagari A, Salvatore F
Haematologica (ISSN: 0006-4971, 0006-6497, 0390-6078), 2005 Jan 15; 105(2): 905-906.
Dipto. Biochim./Biotecnol. Mediche, CEINGE-Biotecnologie Avanzate, Universita di Napoli Federico II, Via S. Pansini 5, I-80131 Naples, Italy
Dipto. Biochim. /Biotecnol. Mediche, CEINGE-Biotecnologie Avanzate, Universita di Napoli Federico II, Via S. Pansini 5, I-80131 Naples, Italy
References: Yao, D.C., Tolan, D.R., Murray, M.F., Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for the erythrocyte/muscle isozyme of aldolase, ALDOA (Arg303X/Cys338Tyr) (2004) Blood, 103, pp. 2401-240
Kishi, H., Mukai, T., Hirono, A., Human aldolase A deficiency associated with a hemolytic anemia: Thermolabile aldolase due to a single base mutation (1987) Proc Natl Acad Sci U S A, 84, pp. 8633-8627
Kreuder, J., Borkhardt, A., Repp, R., Brief report: Inherited metabolic myopathy and hemolysis due to a mutation in aldolase A (1996) New Engl J Med, 334, pp. 1100-1104
Esposito, G., Vitagliano, L., Costanzo, P., Human aldolase A natural mutants: Relationship between flexibility of the C-terminal region and enzyme function (2004) Biochem J, 380, pp. 51-56
Takahashi, I., Takasaki, Y., Hort, K., Site-directed mutagenesis of human aldolase isozymes: The role of Cys-72 and Cys-338 residues of aldolase A and of the carboxy-terminal Tyr residues of aldolases A and B (1989) J Biochem, 105, pp. 281-286
Steinmann, B., Gitzelmann, R., Van Den Berghe, G., Disorders of fructose metabolism (2001) The Metabolic and Molecular Bases of Inherited Disease. 8th Ed., pp. 1489-1520. , Scriver CS, Beaudet AL, Sly WS, Valle D, eds. New York, NY: McGraw-Hill
Esposito, G., Santamaria, R., Vitagliano, L., Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene (2004) Hum Mutat, 24, pp. 534-541
Yao, D. C., Tolan, D. R., Murray, M. F., Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for the erythrocyte/muscle isozyme of aldolase, ALDOA (Arg303X/Cys338Tyr) (2004) Blood, 103, pp. 2401-240
Unraveling the structural and functional features of an aldolase A mutant involved in the hemolytic anemia and severe rhabdomyolysis reported in a child
Not available.
Unraveling the structural and functional features of an aldolase A mutant involved in the hemolytic anemia and severe rhabdomyolysis reported in a child
No results.
Unraveling the structural and functional features of an aldolase A mutant involved in the hemolytic anemia and severe rhabdomyolysis reported in a child
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