PAH DEFICIENT PATHOLOGY IN HUMANIZED c.1066-11G>A PHENYLKETONURIA MICE
A. Martinez-Pizarro, S. Pico, A. Lopez-Marquez, C. Rodriguez-Lopez, E. Montalvo, M. Alvarez, M. Castro, S. Ramon-Maiques, B. Perez, J. J. Lucas, E. M. Richard, L. R. Desviat
This paper generates a partially humanized mouse model of PKU with the c.1066-11G>A PAH variant, showing splicing defects, metabolic imbalances, and neurological phenotypes.
bioRxiv · Nov 3, 2023 · PreprintPathology