Mitochondrial collapse links PFKFB3-promoted glycolysis with CLN7/MFSD8 neuronal ceroid lipofuscinosis pathogenesis
Irene López-Fabuel, Marina García Macia, Costantina Buondelmonte, Olga Burmistrova, Nicoló Bonora, Brenda Morant-Ferrando, Paula Alonso-Batan, Carlos Vicente‐Gutiérrez, Daniel Jiménez-Blasco, Rubén Quintana–Cabrera, Emilio Fernández, Aseel M. Sharaireh, Marta Guevara‐Ferrer, Lorna M. FitzPatrick, Christopher D. Thompton, , Juan Pedro Bolaños
This study identifies a metabolic shift driven by PFKFB3 in CLN7 disease, showing that targeting glycolysis can alleviate disease hallmarks in a mouse model and patient-derived cells.
bioRxiv · Oct 20, 2020 · PreprintNeuroscience