@MencacciLab

Official MencacciLab Twitter @NMNeurology #Neuro #MovDisorders #Neurogenetics #Lyso #Organelles. Mencacci's tweets signed as NM.

 Northwestern Uni, Feinberg Med
Joined July 2025
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Of interest to those focused on neurogenetics, lysosomal biology, and neurodegeneration: doi.org/10.1172/JCI195336 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
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Deeply grateful to @BonifacinoJuan lab, @ GeorgiaMinakaki and @DimitriKrainc lab, @RMaroofian, my team @FonsecaBranco and TatianaAbramova, and all collaborators, @NMNeurology.
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Overall, our work expands the functional landscape of BORCS5, showing that its loss perturbs lysosomal homeostasis beyond transport defects.
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Both PTVs and missense variants, however, compromise lysosomal function. BORCS5 depletion in iNeurons reduces lysosomal proteolysis and glucocerebrosidase (GCase) and Cathepsin B activity.
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PTVs result in complete loss of BORCS5 protein, and disrupt lysosome anterograde transport, leading to perinuclear lysosome accumulation. In contrast, missense variants do not impair lysosomal trafficking.
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We identified individuals from multiple families carrying BORCS5 variants with severe neurological phenotypes. • Protein-truncating variants (PTVs) cause lethal neuroaxonal dystrophy. • Missense and splice variants lead to progressive encephalopathies with movement disorders.
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It’s out! Thrilled to share our new study on BORCS5-associated neurodegeneration, led with @GeorgiaMinakaki and an outstanding team. 🔗 jci.org/articles/view/195336
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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

Influential Biochemist Svetlana Mojsov Named Winner of 2026 Kimberly Prize - News Center

Distinguished biochemist Svetlana Mojsov, PhD, the Lulu Chow Wang and Robin Chemers Neustein Research Associate Professor at the Rockefeller University, New York, has been named the winner of the...

news.feinberg.northwestern.edu
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And the 27th Annual Joseph C. Calandra lecturer was no other than @BonifacinoJuan! Thanks for your insightful seminar at @NUFeinbergMed #lyso #neuro
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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/c…
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Great NUIN retreat today, especially for our PhD candidate, Ana, who is presenting her first poster 🥳🥳
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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
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