Cell BiologybioRxiv
Defective Neuronal Differentiation in Lowe Syndrome is Associated with Mitochondrial Dysfunction and Impaired Cilia-related Sonic Hedgehog Signaling
Grzegorz Walkiewicz, Siyu Chen, Chien‐Hui Lo…·Yang Sun
This study identifies mitochondrial dysfunction and impaired Sonic Hedgehog signaling as key defects in Lowe syndrome, linking OCRL loss to altered neuronal differentiation and ciliary homeostasis.