Article
Novel TMEM173 Mutation and the Role of Disease Modifying Alleles.
Frontiers in immunology - 1 Jan 2019
Keskitalo Salla, Haapaniemi Emma, Einarsdottir Elisabet, Rajamäki Kristiina, Heikkilä Hannele, Ilander Mette, Pöyhönen Minna, Morgunova Ekaterina, Hokynar Kati, Lagström Sonja, Kivirikko Sirpa, Mustjoki Satu, Eklund Kari, Saarela Janna, Kere Juha, Seppänen Mikko R J, Ranki Annamari, Hannula-Jouppi Katariina, Varjosalo Markku
Abstract excerpt
Upon binding to pathogen or self-derived cytosolic nucleic acids cyclic GMP-AMP synthase (cGAS) triggers the production of cGAMP that further activates transmembrane protein STING. Upon activation STING translocates from ER via Golgi to vesicles. Monogenic STING gain-of-function mutations cause early-onset type I interferonopathy, with disease presentation ranging from fatal vasculopathy to mild chilblain lupus....
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