NeurosciencebioRxivPreprint
Mitochondrial collapse links PFKFB3-promoted glycolysis with CLN7/MFSD8 neuronal ceroid lipofuscinosis pathogenesis
Irene López-Fabuel, Marina García Macia, Costantina Buondelmonte…·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.