Molecular BiologybioRxivPreprint
Functional characterization of ATP13A2 variants associated with distinct neurodegenerative disorders
Stephanie Vrijsen, Rania Abou El Asrar, Marine Houdou…·Peter Vangheluwe
The paper functionally characterizes ATP13A2 variants linked to neurodegenerative disorders, finding that only the homozygous NCL variant causes complete loss-of-function, while others show subtle defects.
DOI 10.1101/2023.08.21.552829