Functional characterization of hypertriglyceridemia-associated mutations in Lipase Maturation Factor 1 by a second-generation activity assay
Candy Bedoya, Parmis Rejali, Xanden Mccleary, Zachary Hall, Michael M. Hoffmann, Laurie Green, Philip H. Frost, Mary Malloy, Clive R. Pullinger, John P. Kane, Miklós Péterfy
This paper develops a new assay to functionally analyze LMF1 variants linked to hypertriglyceridemia, identifying 12 loss-of-function variants and highlighting Loop C as a critical region.
bioRxiv · Sep 7, 2026 · PreprintBiochemistry