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TYK2 variants in cytokine signaling and autoimmune diseases
Sandra Pellegrini (PI)
TYK2 belongs to the Janus/JAK family of protein tyrosine kinases and is involved in signaling of immunoregulatory cytokines (type I and type III IFNs, IL-6, IL-10 and IL-12 families) that contribute to a balanced […]
2020Two common disease-associated TYK2 variants impact exon splicing and TYK2 dosage., PLoS One 2020 ; 15(1): e0225289.
2019USP18 and ISG15 coordinately impact on SKP2 and cell cycle progression, Sci Rep 2019 Mar;9(1):4066.
2018Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant, Sci Immunol 2018 Dec;3(30).
2017STAT2 is an essential adaptor in USP18-mediated suppression of type I interferon signaling, Nat. Struct. Mol. Biol. 2017 Mar;24(3):279-289.
2016Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome, J. Exp. Med. 2016 Jun;213(7):1163-74.
2016ISG15 deficiency and increased viral resistance in humans but not mice, Nat Commun 2016 05;7:11496.
2016The cyclin D1 carboxyl regulatory domain controls the division and differentiation of hematopoietic cells, Biol. Direct 2016;11:21.