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De Novo PACSIN1 Gene Variant Found in Childhood Lupus and a Role for PACSIN1 / TRAF4 Complex in Toll‐like Receptor 7 Activation

9 Jan 2023

Abstract excerpt

OBJECTIVE: Increased Toll-like receptor 7 (TLR-7) signaling leading to the production of type I interferon (IFN) is an important contributor to human systemic lupus erythematosus (SLE). Protein kinase C and casein kinase substrate in neurons 1 (PACSIN1), a molecule that regulates synaptic vesicle recycling, has been linked to TLR-7/TLR-9-mediated type I IFN production in humans and mice, but the underlying...

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PMID: 36622335
DOI: 10.1002/art.42416

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