Article
Characterization of the mutation responsible for aspartylglucosaminuria in three Finnish patients. Amino acid substitution Cys163----Ser abolishes the activity of lysosomal glycosylasparaginase and its conversion into subunits.
The Journal of biological chemistry - 25 Jun 1991
Fisher K J, Aronson N N
Abstract excerpt
The mutation that causes a deficiency of the lysosomal amidase, glycosylasparaginase, has been characterized in fibroblasts from three Finnish patients diagnosed with aspartylglucosaminuria (AGU). The polymerase chain reaction was used to amplify the glycosylasparaginase protein coding sequence f...
Topics
- Acetylglucosamine
- Amino Acid Sequence
- Aspartylglucosylaminase
- Base Sequence
- Blotting, Northern
- Blotting, Southern
- Cysteine
- DNA
- Fibroblasts
- Finland
- Humans
- Lysosomes
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Protein Biosynthesis
- RNA, Messenger
- Restriction Mapping