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Fig. 5 | Human Genomics

Fig. 5

From: Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy

Fig. 5

The NO-sGC-cGMP pathway in the vascular wall. NO is produced in the endothelium by endothelial NOS. It diffuses through the cellular membranes and reaches the soluble Guanylate Cyclase to activate cGMP production in the vascular smooth muscle cell. cGMP in turn activates downstream effectors involved in vasodilation, regulation of vascular tone and vascular remodeling. Legend: BM: basement membrane; EC: endothelial cell; eNOS: endothelial NO synthase; sGC: soluble Guanylate cyclase; cGMP: cyclic Guanosine Monophosphate; GTP: Guanosine Triphosphate; NO: nitric oxide; vSMC: vascular smooth muscle cell

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Human Genomics

ISSN: 1479-7364