Functional analysis of LDLR variants reveals that the novel p.(Ser610Tyr) variant in the YMDD motif drastically impacts LDL uptake
Cris Ortiz López, Neila Rodríguez Roca, Irene Hidalgo Mayoral, Amanda Herranz, Carlos Rodríguez‐Antolín, Pedro Martı́nez Hernández, Ana Carazo Álvarez, Francisco Jesús Arrieta Blanco, Sara Fernández Hernández, María Jesús Delgado-Martos, C.A. Valero Jimenez, Sonia Rodríguez‐Nóvoa
The paper functionally analyzes LDLR variants in hypercholesterolemia patients, reclassifying five variants as pathogenic and identifying the novel p.(Ser610Tyr) variant as significantly impacting LDL uptake.
medRxiv · May 16, 2025 · PreprintGenetic & Genomic Medicine