Loss of function variants in PCYT1A causing spondylometaphyseal dysplasia with cone/rod dystrophy have broad consequences on lipid metabolism, chondrocyte differentiation, and lipid droplet formation.
Julie A. Jurgens, Suming Chen, Nara Lygia de Macena Sobreira, Sarah Robbins, Arianna Franca Anzmann, Raha Maryam Dastgheyb, Saja S. Khuder, Julie Elizabeth Hoover-Fong, Courtney E. Woods, Felicity A. Collins, John Christodoulou, Guilherme Lopes Yamamoto, Débora Romeo Bertola, Wagner Antonio da Rosa Baratela, Sophie D. Curie, , David L. Valle
This study investigates the effects of PCYT1A variants on lipid metabolism, chondrocyte differentiation, and lipid droplet formation using cellular models and lipidomics.
bioRxiv · Dec 19, 2019 · PreprintGenetics