Article
A naturally occurring mutation at the second base of codon asparagine 43 in the proposed N-linked glycosylation site of human lipoprotein lipase: in vivo evidence that asparagine 43 is essential for catalysis and secretion.
Biochemical and biophysical research communications - 30 Nov 1994
Kobayashi J, Inadera H, Fujita Y, Talley G, Morisaki N, Yoshida S, Saito Y, Fojo S S, Brewer H B
Abstract excerpt
The patient was a 20-year-old male. His fasting plasma triglyceride and cholesterol levels were 1258 mg/dl and 138 mg/dl, respectively. The lipoprotein lipase (LPL) activity and mass from postheparin plasma of the patient were 0.00 mumol/ml/h (normal range: 5.51 +/- 1.12) and 23 ng/ml (normal ran...
Topics
- Adult
- Amino Acid Sequence
- Asparagine
- Base Sequence
- Codon
- DNA Mutational Analysis
- DNA, Complementary
- Glycosylation
- Heparin
- Humans
- Lipoprotein Lipase
- Male
- Molecular Sequence Data
- Mutation