Mitchell J. Rechtzigel

A splice-switching antisense oligonucleotide delivered via intravitreal injection mitigates early retinal dysfunction in a pig model of CLN3 Batten disease.

This study creates a BPAN patient-inspired mouse model with a Wdr45 mutation, revealing motor dysfunction, axon terminal abnormalities, and disrupted pathways in the brain.

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

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.