Our paper is finally out in eLife!🧠🔬
A team effort exploring neuronal dysfunction in Lowe syndrome, with a focus on mitochondrial defects across iPSC neurons, mouse & zebrafish models.
Happy to share our science openly, beyond Impact Factor. Huge thanks to everyone involved!
doi.org/10.7554/eLif...
doi.org
Defective neuronal differentiation in Lowe syndrome is associated with mitochondrial dysfunction and impaired cilia-related Sonic Hedgehog signaling
OCRL deficiency is associated with mitochondrial dysfunction, altered ciliary signaling, and disrupted neural cell-state regulation across multiple experimental models of Lowe syndrome.
