Article
Expression, purification and kinetic characterization of wild-type human ornithine transcarbamylase and a recurrent mutant that produces 'late onset' hyperammonaemia.
The Biochemical journal - 1 Mar 1997
Morizono H, Tuchman M, Rajagopal B S, McCann M T, Listrom C D, Yuan X, Venugopal D, Barany G, Allewell N M
Abstract excerpt
Ornithine Transcarbamylase Deficiency, an X-linked disorder, is the most common cause of inherited urea cycle disorders. Approx. 90 mutations that produce reduced levels of ornithine transcarbamylase (OTCase) activity have been identified in patients [Tuchman (1993) Hum. Mutat. 2, 174-178; Tuchma...
Topics
- Ammonia
- Chromatography, Affinity
- Cloning, Molecular
- Enzyme Stability
- Genetic Diseases, Inborn
- Humans
- Hydrogen-Ion Concentration
- Models, Molecular
- Mutation
- Ornithine Carbamoyltransferase
- Recombinant Proteins