Jon J. Brudvig

This study shows that sortilin inhibition with AF38469 improves lysosomal and glial pathology in multiple Batten disease models.

This paper presents a novel porcine model of CLN3 Batten disease that recapitulates clinical phenotypes observed in humans.

This study identifies a shared protein network involving Batten disease proteins that regulates synaptic composition and function through interactions with vesicle sorting proteins.

This study identifies a novel CCK complex involving CLN6, CRMP2, and KLC4 that regulates ER-derived vesicle transport in axons, with implications for neurodegenerative disease therapy.

This study shows that AAV9 gene therapy in a mouse model of CLN8-Batten disease improves lifespan, reduces pathology, and reverses behavioral issues.

The paper uses a multimodal approach to identify clinically relevant parameters for tracking disease progression in a mouse model of Batten disease.