Jenn Orthmann Murphy

@jennoligomyelin.bsky.social

fan of myelinating cells, my lab group is "OMg"

Standing up for science by sharing this labor of ❤️ out today! What underlies selective neuronal vulnerability in rare 🧬 disorders when the gene is ubiquitously expressed? TBCK patient derived neurons have axonal predominant lysosomal and mRNA trafficking defects, 👇🏽 www.biorxiv.org/content/10.1...

TBCK-deficiency leads to compartment-specific mRNA and lysosomal trafficking defects in patient-derived neurons

Monogenic pediatric neurodegenerative disorders can reveal fundamental cellular mechanisms that underlie selective neuronal vulnerability. TBCK-Encephaloneuronopathy (TBCKE) is a rare autosomal recess...

biorxiv.org