Gong, @jennoligomyelin.bsky.social, Abrams et al. present two novel, disease-causing genetic variants of #connexin 47. In vitro assays and MD simulations reveal unique mechanisms that relate connexin 47 mutations to severities of Pelizaeus–Merzbacher-like disease 1. rupress.org/jgp/article/...
Out today! Taking the diagnostic challenges from clinic into the lab bench to learn from our rare disease patients
Thanks to David Yule and his team for partnering with us in this project
www.neurology.org/doi/10.1212/...
OMg outing at the Flyers game last night - they won and we had fun celebrating 7 years of Christine lab managing
Fantastic session this morning at #ANA2025 on 'Communicating your Science' with Drs. S. Andrew Josephson, @rkchoi.bsky.social, Sara Manning and Kelly Sloane
#Gliadelphia Fall 2025 conference is underway with an incredible FLASH presenter talk session to introduce the poster session!!
We had a beautiful day for the Philly WalkMS for @nationalmssociety.bsky.social . Team #Gliadelphia @pennmedicine.bsky.social MS Division and @pennngg.bsky.social was there to support our friends, family and patients
Our Paper is out! We studied cortical microglia and regenerating oligodendrocyte (OL) interactions. In short: demyelination induces transiently reactive microglia and depletion of these reactive microglia increase recovering OL number onlinelibrary.wiley.com/doi/10.1002/...
alert! fundamental myelin biology - led by the amazing Yevgeniya Mironova and Dwight Bergles www.science.org/doi/10.1126/...
Oligodendrocytes form myelin sheaths around axons to enable rapid signaling within neural circuits. The generation of new oligodendrocytes through differentiation of oligodendrocyte precursor cells (O...
www.science.org
Jenn Orthmann Murphy
Jenn Orthmann Murphy
Xilma Ortiz-Gonzalez MD PhD
Jenn Orthmann Murphy
Jenn Orthmann Murphy
Jenn Orthmann Murphy
Background and ObjectivesHeterozygous ITPR1 variants have been previously linked to multiple human disease phenotypes, including
congenital ataxia and Gillespie syndrome. Previous reports have describ...
Cuprizone demyelination induces transient reactive states in deep cortical microglia (MG) through early recovery. Depleting MG in recovery increases the number of deep cortical mature/pre-myelina...