A mutation in the PRKAR1B gene drives pathological mechanisms of neurodegeneration across species

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 drivi...

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Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2024-11, Vol.147 (11), p.3890-3905
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Aged Alzheimer Disease - genetics Alzheimer Disease - metabolism Alzheimer Disease - pathology Animals Brain - metabolism Brain - pathology Cyclic AMP-Dependent Protein Kinase RIbeta Subunit - genetics Cyclic AMP-Dependent Protein Kinase RIbeta Subunit - metabolism Disease Models, Animal Female Humans Male Mice Mice, Inbred C57BL Mice, Transgenic Mutation - genetics Neurodegenerative Diseases - genetics Neurodegenerative Diseases - metabolism Neurodegenerative Diseases - pathology Original
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