Article
In vitro hybridization and separation of hybrids of human adenylosuccinate lyase from wild-type and disease-associated mutant enzymes.
Biochemistry - 1 Mar 2011
De Zoysa Ariyananda Lushanti, Antonopoulos Christina, Currier Jenna, Colman Roberta F
Abstract excerpt
Human adenylosuccinate lyase (ASL) deficiency is an inherited metabolic disease in which the majority of the patients are compound heterozygotes for the mutations that occur in the ASL gene. Starting with purified wild-type (WT) and single-mutant human ASL, we generated in vitro hybrids that mimic compound heterozygote ASL. For this study, we used His-tagged WT/non-His-tagged WT, His-tagged WT/non-His-tagged...
Topics
- Adenylosuccinate Lyase
- Amino Acid Sequence
- Aminoimidazole Carboxamide
- Area Under Curve
- Electrophoresis, Polyacrylamide Gel
- Enzyme Stability
- Histidine
- Humans
- Kinetics
- Metabolism, Inborn Errors
- Models, Molecular
- Molecular Sequence Data
- Mutagenesis, Site-Directed