A mutation in the PRKAR1B gene drives pathological mechanisms of neurodegeneration across species (Brain .)

Protein Kinase A (PKA) neuronal function is controlled by the interaction of a regulatory (R) subunit dimer to two catalytic (C) subunits. Recently, the L50R variant in the gene encoding the RIβ subunit was identified in individuals with a novel neurodegenerative disease. However, the mechanisms driving the disease phenotype remained unknown. In this study, we generated a mouse model carrying the RIβ-L50R mutation to replicate the human disease phenotype and study its progression with age. 

(Tal Benjamin-Zukerman, Gilat Shimon, Anwar Dakwar, Netta Peled, Mohammad Aboraya, Ashar Masri-Ismail, Rania Safadi-Safa, Meir Solomon, Ronit Ilouz)