AAV-mediated gene transfer of WDR45 corrects neurologic deficits in the mouse model of beta-propeller protein-associated neurodegeneration
Maria Carla Carisi,
Claire Shamber,
Martha Bishop
et al.
Abstract:Beta-propeller protein-associated neurodegeneration (BPAN) is an ultra-rare, X-linked dominant, neurodegenerative disease caused by loss-of-function mutations in theWDR45gene. It manifests in neurodevelopmental delay and seizures followed by secondary neurologic decline with dystonia/parkinsonism and dementia in adolescence and early adulthood and is characterized by progressive accumulation of iron in the basal ganglia.WDR45encodes β-propeller-shaped scaffold protein, or WIPI4, which plays an important role i… Show more
Set email alert for when this publication receives citations?
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.