BiochemistrybioRxivPreprint
Functional characterization of hypertriglyceridemia-associated mutations in Lipase Maturation Factor 1 by a second-generation activity assay
Candy Bedoya, Parmis Rejali, Xanden Mccleary…·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.
DOI 10.64898/2026.09.03.749245