ABCA7 Loss-of-Function Variants Impact Phosphatidylcholine Metabolism in the Human Brain
Djuna Katrina von Maydell, Shannon Wright, Ping‐Chieh Pao, Colin Staab, Oisín King, Andrea Spitaleri, Julia Maeve Bonner, Liwang Liu, Chung Jong Yu, Ching-Chi Chiu, Daniel Leible, Aine Ni Scannail, Mingpei Li, Carles A. Boix, Hansruedi Mathys, , Li‐Huei Tsai
This study identifies ABCA7 loss-of-function variants' impact on phosphatidylcholine metabolism in human neurons and shows CDP-choline can reverse these effects.
bioRxiv · Sep 5, 2023 · PreprintNeuroscience