Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance(309 views) Esposito G, Vitagliano L, Santamaria R, Viola A, Zagari A, Salvatore F
Febs Lett (ISSN: 0014-5793, 0014-5793print, 1873-3468electronic), 2002 Nov 6; 531(2): 152-156.
Dipartimento di Biochimica e Biotecnologie Mediche, CEINGE-Biotecnologie Avanzate, Università di Napoli Federico II, Via S. Pansini 5, I-80131 Napoli, Italy
Istituto di Biostrutture e Bioimmagini, CNR and Dipartimento di Chimica Biologica, Università di Napoli Federico II, Via Mezzocannone 6, I-80134 Napoli, Italy
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Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance
Hereditary fructose intolerance (HFI) is a recessively inherited disorder of carbohydrate metabolism caused by impaired function of human liver aldolase (B isoform). 25 enzyme-impairing mutations have been identified in the aldolase B gene. We have studied the HFI-related mutant recombinant proteins W147R, A149P, A174D, L256P, N334K and Delta6ex6 in relation to aldolase B function and structure using kinetic assays and molecular graphics analysis. We found that these mutations affect aldolase B function by decreasing substrate affinity, maximal velocity and/or enzyme stability. Finally, the functional and structural analyses of the non-natural mutant Q354E provide insight into the catalytic role of Arg(303), whose natural mutants are associated to BEL (C) 2002 Federation of European Biochemical Societies. Published by Elsevier Science B.V. All rights reserved.
Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance
No results.
Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance
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