Brandon L. Meyerink

Mutation in Wdr45 leads to early motor dysfunction and widespread aberrant axon terminals in a beta-propeller protein associated neurodegeneration (BPAN) patient-inspired mouse model

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.

AAV-mediated gene transfer of WDR45 corrects neurologic deficits in the mouse model of beta-propeller protein-associated neurodegeneration

This study shows that AAV-mediated WDR45 gene transfer rescues neurologic deficits and autophagy defects in a mouse model of BPAN.

Sortilin inhibition treats multiple neurodegenerative lysosomal storage disorders.

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

Breasi-CRISPR: an efficient genome editing method to interrogate protein localization and protein-protein interactions in the embryonic mouse cortex

Breasi-CRISPR efficiently tags endogenous proteins in embryonic mouse brains for localization and interaction studies, enabling visualization and interactome analysis.

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

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

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

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.

AAV9 gene therapy restores lifespan and treats pathological and behavioral abnormalities in a mouse model of CLN8-Batten disease

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