Article
A mutation in the PRKAR1B gene drives pathological mechanisms of neurodegeneration across species.
Brain : a journal of neurology - 4 Nov 2024
Benjamin-Zukerman Tal, Shimon Gilat, Gaine Marie E, Dakwar Anwar, Peled Netta, Aboraya Mohammad, Masri-Ismail Ashar, Safadi-Safa Rania, Solomon Meir, Lev-Ram Varda, Rissman Robert A, Mayrhofer Johanna E, Raffeiner Andrea, Mol Merel O, Argue Benney M R, McCool Shaylah, Doan Binh, van Swieten John, Stefan Eduard, Abel Ted, Ilouz Ronit
Abstract excerpt
Protein kinase A (PKA) neuronal function is controlled by the interaction of a regulatory (R) subunit dimer with two catalytic 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...
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