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

Nucleic Acids Research · Oct 16, 2025Peer-reviewedMolecular Biology

Sortilin inhibition treats multiple neurodegenerative lysosomal storage disorders.

Hannah G. Leppert, Joelle T. Anderson, Kaylie J. Timm, Cristina Davoli, Melissa A. Pratt, Clarissa D. Booth, Katherine A. White, Mitchell J. Rechtzigel, Brandon L. Meyerink, Tyler B. Johnson, Jon J. Brudvig, Jill M. Weimer

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

bioRxiv · Sep 22, 2023 · PreprintNeuroscience

Transmembrane Batten disease proteins interact with a shared network of vesicle sorting proteins to regulate synaptic composition and function.

Mitchell J. Rechtzigel, Brandon L. Meyerink, Hannah G. Leppert, Tyler B. Johnson, Jacob T. Cain, Gavin Ferrandino, Danielle G. May, Kyle J. Roux, Jon J. Brudvig, Jill M. Weimer

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

Frontiers in Neuroscience · May 25, 2022Peer-reviewedNeuroscience

A CLN6-CRMP2-KLC4 complex regulates anterograde ER-derived vesicle trafficking in cortical neurites

SY Koh, JT Cain, Helen Magee, Katherine A. White, Mitchell J. Rechtzigel, Brandon L. Meyerink, Hannah G. Leppert, DJ Timm, JP Morgan, TB Johnson, Bryon D. Grove, Rajesh Khanna, Kenneth Hensley, Jon J. Brudvig, Jill M. Weimer

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.

bioRxiv · Sep 16, 2021 · PreprintNeuroscience