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Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus

Archive ouverte | David, Clémence | CCSD

International audience. UNC93B1 is a transmembrane domain protein mediating the signaling of endosomal Toll-like receptors (TLRs). We report five families harboring rare missense substitutions (I317M, G325C, L330R, ...

Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling

Archive ouverte | Lepelley, Alice | CCSD

International audience. Heterozygous missense mutations in coatomer protein subunit α, COPA, cause a syndrome overlapping clinically with type I IFN-mediated disease due to gain-of-function in STING, a key adaptor o...

Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies

Archive ouverte | Lodi, Lorenzo | CCSD

International audience. Whilst upregulation of type I interferon (IFN) signaling is common across the type I interferonopathies (T1Is), central nervous system (CNS) involvement varies between these disorders, the ba...

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