Publications by authors named "J Shuhua"
Article Synopsis
- A proband with chylomicronemia, pancreatitis, and non-insulin-dependent diabetes (NIDDM) has two different mutations in the lipoprotein lipase (LPL) gene, affecting lipid metabolism.
- The R75S mutation was found to destabilize LPL's active form, while hydrolysis tests showed it doesn't impair the activation by apoC-II.
- Subjects with NIDDM and certain LPL mutations showed severe hypertriglyceridemia and severe phenotypes, indicating increased risks for severe lipemia in those with defective LPL alleles.
Most missense mutations of the lipoprotein lipase (LPL) gene identified among LPL-deficient subjects cluster in a segment of the sequence that encodes the catalytic triad as well as functional elements involved in the activation of the lipase at lipid-water interfaces. Consequently, loss of activity may result either from direct alterations of such functional elements or from less specific effects on protein folding and stability. This issue was addressed by examining biochemical properties of four such variants (A176T, G188E, G195E, and S244T) in a heterologous expression system (COS-1 cells).
View Article and Find Full Text PDF