MencacciLab

Of interest to those focused on neurogenetics, lysosomal biology, and neurodegeneration: doi.org/10.1172/JCI195… Dimitri Krainc & team @NUFeinbergMed identify BORCS5 variants in cases with a broad spectrum of neurological disorders and reveal a novel role for #BORCS5 in lysosomal function. The figure: Neuroimaging findings in control (top) and cases with BORCS5 missense and splice-site variants. #Neurogenetics

Deeply grateful to @BonifacinoJuan lab, @ GeorgiaMinakaki and @DimitriKrainc lab, @RMaroofian, my team @FonsecaBranco and TatianaAbramova, and all collaborators, @NMNeurology.

Overall, our work expands the functional landscape of BORCS5, showing that its loss perturbs lysosomal homeostasis beyond transport defects.

It’s out! Thrilled to share our new study on BORCS5-associated neurodegeneration, led with @GeorgiaMinakaki and an outstanding team. 🔗 jci.org/articles/view/…

Congratulations to Svetlana Mojsov, PhD, winner of the 2025 Kimberly Prize in #Biochemistry for her discovery of #GLP1, a gut hormone central to insulin regulation and now the basis of widely used diabetes and weight-loss treatments. @RockefellerUniv spr.ly/6019AYWPf

And the 27th Annual Joseph C. Calandra lecturer was no other than @BonifacinoJuan! Thanks for your insightful seminar at @NUFeinbergMed #lyso #neuro

Don’t miss the Updates in Neurology Symposium 2025 on October 10! Join leading @Northwestern neurologists for a dynamic, one-day event packed with the latest breakthroughs in neurological care. Secure your spot today: northwestern.cloud-cme.com/course/courseo…

Great NUIN retreat today, especially for our PhD candidate, Ana, who is presenting her first poster 🥳🥳

We’re live! 🚀 Huge thanks to everyone who helped launch the Mencacci Lab at the @NMNeurology. Excited for the journey and the science ahead! Daje