New THAP1 mutation and role of putative modifier in TOR1A
Sign Up to like & getrecommendations! Published in 2017 at "Acta Neurologica Scandinavica"
DOI: 10.1111/ane.12579
Abstract: The prevalence of DYT1 (mutation in TOR1A) and DYT6 (mutation in THAP1) may vary in different populations, which can have important implications in clinical investigation. Our goal was to characterize patients with inherited and isolated… read more here.
Keywords: thap1 mutation; mutation role; role putative; thap1 ... See more keywords
Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2019.02770
Abstract: 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… read more here.
Keywords: mutation role; role disease; disease; novel tmem173 ... See more keywords