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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...

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

Archive ouverte | Uggenti, Carolina | CCSD

International audience. Inappropriate stimulation or defective negative regulation of the type I interferon response can lead to autoinflammation. In genetically uncharacterized cases of the type I interferonopathy ...

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