Article
Differential effects on enzyme stability and kinetic parameters of mutants related to human triosephosphate isomerase deficiency.
Biochimica et biophysica acta. General subjects - 1 Jun 2018
Cabrera Nallely, Torres-Larios Alfredo, García-Torres Itzhel, Enríquez-Flores Sergio, Perez-Montfort Ruy
Abstract excerpt
Human triosephosphate isomerase (TIM) deficiency is a very rare disease, but there are several mutations reported to be causing the illness. In this work, we produced nine recombinant human triosephosphate isomerases which have the mutations reported to produce TIM deficiency. These enzymes were characterized biophysically and biochemically to determine their kinetic and stability parameters, and also to...
Topics
- Anemia, Hemolytic, Congenital Nonspherocytic
- Carbohydrate Metabolism, Inborn Errors
- Enzyme Stability
- Humans
- Kinetics
- Models, Molecular
- Mutagenesis, Site-Directed
- Mutation
- Protein Conformation
- Triose-Phosphate Isomerase