Article
Two naturally occurring mutations at the first and second bases of codon aspartic acid 156 in the proposed catalytic triad of human lipoprotein lipase. In vivo evidence that aspartic acid 156 is essential for catalysis.
The Journal of biological chemistry - 25 Jan 1992
Ma Y H, Bruin T, Tuzgol S, Wilson B I, Roederer G, Liu M S, Davignon J, Kastelein J J, Brunzell J D, Hayden M R
Abstract excerpt
We are studying naturally occurring mutations in the gene for lipoprotein lipase (LPL) to advance our knowledge about the structure/function relationships for this enzyme. We and others have previously described 11 mutations in human LPL gene and until now none of these directly involves any of t...
Topics
- Amino Acid Sequence
- Animals
- Aspartic Acid
- Base Sequence
- Binding Sites
- Cell Line
- Cloning, Molecular
- Codon
- DNA
- Exons
- Female
- Humans
- Leukocytes
- Lipoprotein Lipase