Population
COS1 cells and human fibroblasts expressing wild-type or Asn291-->Ser mutant human lipoprotein lipase
Comparison
Expression of Asn291-->Ser mutant human LPL vs Expression of wild-type (WT) human LPL
Design
Preclinical
Authors
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N291S may reduce LPL activity in hyperlipidemia; leaves open clinical relevance pending human validation.
The N291S mutation in human lipoprotein lipase reduces its catalytic activity without affecting heparin binding, providing a mechanistic explanation for hyperlipidemia in patients with this mutation.
Buscà et al. (1995) studied this question.
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