Article
Characterization of human wild-type and mutant argininosuccinate synthetase proteins expressed in bacterial cells.
Enzyme & protein - 1 Jan 2000
Shaheen N, Kobayashi K, Terazono H, Fukushige T, Horiuchi M, Saheki T
Abstract excerpt
Argininosuccinate synthetase (ASS) is a urea cycle enzyme with a tetrameric structure composed of identical subunits. Citrullinemia is an autosomal recessive disease caused by a deficiency of ASS. We have previously identified 20 mutations in ASS mRNA of human classical citrullinemia. However, it...
Topics
- Amino Acid Sequence
- Animals
- Argininosuccinate Synthase
- Blotting, Northern
- Circular Dichroism
- Citrulline
- Cloning, Molecular
- DNA Primers
- DNA, Complementary
- Electrophoresis, Polyacrylamide Gel
- Enzyme-Linked Immunosorbent Assay
- Gene Expression
- Genetic Vectors
- Humans
- Molecular Sequence Data
- Mutation
- Plasmids
- Polymerase Chain Reaction