| Title : 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 - Kobayashi_1994_Biochem.Biophys.Res.Commun_205_506 |
| Author(s) : Kobayashi J , Inadera H , Fujita Y , Talley G , Morisaki N , Yoshida S , Saito Y , Fojo SS , Brewer HB, Jr. |
| Ref : Biochemical & Biophysical Research Communications , 205 :506 , 1994 |
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Abstract :
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 range: 220 +/- 42), respectively. DNA sequence analysis of the LPL gene from the patient revealed a homozygous nucleotide change: a A-->G transition at nucleotide position 383, resulting in an amino acid substitution of Ser for Asn43, which is believed to be an N-linked glycosylation site of the LPL mature protein. Expression studies of this mutant LPL cDNA produced an inactive LPL protein which was not secreted into the media. |
| PubMedSearch : Kobayashi_1994_Biochem.Biophys.Res.Commun_205_506 |
| PubMedID: 7999071 |
| Mutation | N70S_human-LPL |
Kobayashi J, Inadera H, Fujita Y, Talley G, Morisaki N, Yoshida S, Saito Y, Fojo SS, Brewer HB, Jr. (1994)
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 & Biophysical Research Communications
205 :506
Kobayashi J, Inadera H, Fujita Y, Talley G, Morisaki N, Yoshida S, Saito Y, Fojo SS, Brewer HB, Jr. (1994)
Biochemical & Biophysical Research Communications
205 :506