Novel TMEM173 Mutation and the Role of Disease Modifying Alleles

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles

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 earl...

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Bibliographic Details
Main Authors: Salla Keskitalo, Emma Haapaniemi, Elisabet Einarsdottir, Kristiina Rajamäki, Hannele Heikkilä, Mette Ilander, Minna Pöyhönen, Ekaterina Morgunova, Kati Hokynar, Sonja Lagström, Sirpa Kivirikko, Satu Mustjoki, Kari Eklund, Janna Saarela, Juha Kere, Mikko R. J. Seppänen, Annamari Ranki, Katariina Hannula-Jouppi, Markku Varjosalo
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-12-01
Series:Frontiers in Immunology
Subjects:
TMEM173
stimulator of interferon genes
interferon type I
IFIH1
additive effect
protein interactions
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2019.02770/full

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