Unraveling the structural and functional features of an aldolase A mutant involved in the hemolytic anemia and severe rhabdomyolysis reported in a child-Reference-Cited by-同舟云学术

Unraveling the structural and functional features of an aldolase A mutant involved in the hemolytic anemia and severe rhabdomyolysis reported in a child

Published:2005-01-15 Issue:2 Volume:105 Page:905-906
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Esposito Gabriella,Vitagliano Luigi,Cevenini Armando,Amelio Tiziana,Zagari Adriana,Salvatore Francesco

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/105/2/905/1706020/zh800205000902d.pdf

Reference8 articles.

1. Yao DC, Tolan DR, Murray MF, et al. Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for the erythrocyte/muscle isozyme of aldolase, ALDOA (Arg303X/Cys338Tyr). Blood. 2004;103: 2401-2403.

2. Kishi H, Mukai T, Hirono A, et al. Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation. Proc Natl Acad Sci U S A. 1987;84: 8623-8627.

3. Kreuder J, Borkhardt A, Repp R, et al. Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A. New Engl J Med. 1996; 334: 1100-1104.

4. Esposito G, Vitagliano L, Costanzo P, et al. Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function. Biochem J. 2004;380: 51-56.

5. Esposito G, Vitagliano L, Santamaria R, et al. Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance. FEBS Lett. 2002;531: 152-156.

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