Article
Higher susceptibility to heme oxidation and lower protein stability of the rare α1C517Yβ1 sGC variant associated with moyamoya syndrome.
Biochemical pharmacology - 1 Apr 2021
Sharina Iraida, Lezgyieva Karina, Krutsenko Yekaterina, Martin Emil
Abstract excerpt
NO sensitive soluble guanylyl cyclase (sGC) plays a key role in mediating physiological functions of NO. Genetic alterations of the GUCY1A3 gene, coding for the α1 subunit of sGC, are associated with several cardiovascular dysfunctions. A rare sGC variant with Cys517 → Tyr substitution in the α1subunit, has been associated with moyamoya disease and achalasia. In this report we characterize the properties of this...
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