Article
A central role for PI3K-AKT signaling pathway in linking SAMHD1-deficiency to the type I interferon signature.
Scientific reports - 8 Jan 2018
Oh Changhoon, Ryoo Jeongmin, Park Kiwon, Kim Baek, Daly Michele B, Cho DongYeon, Ahn Kwangseog
Abstract excerpt
The autoimmune disorder Aicardi-Goutières syndrome (AGS) is characterized by a constitutive type I interferon response. SAMHD1 possesses both dNTPase and RNase activities and mutations in SAMHD1 cause AGS; however, how SAMHD1-deficiency causes the type I interferon response in patients with AGS remains unknown. Here, we show that endogenous RNA substrates accumulated in the absence of SAMHD1 act as a major...
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