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Functional characterization of disease-associated mutations in type I cGMP-dependent protein kinase
Cardiovascular diseases are the leading cause of death worldwide, and while mainly associated with behavioral risk factors, they can also be linked to genetic disorders. The cGMP-dependent protein kinase type I (PKG I) plays a pivotal role in the homeostasis of the vasculature by mediating NO/cGMP-dependent relaxation of vascular smooth muscle cells. A recently described genetic risk factor associated with PKG I results in heritable thoracic aortic aneurysms and dissections (TAAD). Although PKG isoforms Iα and Iβ ...
Pathogenic Mutations in Catalytic Subunit Isoforms of the cAMP-Dependent Protein Kinase
Protein kinase A (PKA) is an integral part in a myriad of cellular pathways and a main effector of the second messenger cAMP. Since its discovery in the late 1960s, PKA has become one of the best-studied eukaryotic protein kinases in terms of enzymatic and structural features. Pathological implications of PKA have just started to emerge. There are three main isoforms (α, β, γ) of the catalytic subunit of PKA (PKA-C) which constitute a holoenzyme (R2C2) by association with a regulatory subunit (PKA-R) dimer. While ...