The Northcott lab identified inherited ELP1 loss increases risk for SHH #medulloblastoma through stalled differentiation, DNA replication stress, genomic instability, and accelerated cell cycle. Restoring p53 signaling was found to have therapeutic potential. tinyurl.com/5355xy6t

The proteosome fine-tunes protein levels; defects in targeted degradation cause disease, such as mutations in KBTBD4 driving medulloblastoma. Investigators at UW, Harvard, and St. Jude identified these mutations create interactions with new protein targets to aberrantly degrade them.

Honored to contribute to this study! Excited to see the impact of our work.

Thrilled to share our recent work published in @naturegenet.bsky.social, where we uncover how ZIC1 is regulated by distinct genetic and epigenetic mechanisms in SHH vs. Group 4 medulloblastoma—revealing it as a context-dependent driver. tinyurl.com/2c3jnhn2