Lupus-Associated Functional Polymorphism in PNP Causes Cell Cycle Abnormalities and Interferon Pathway Activation in Human Immune Cells.

doi:10.1002/art.40304

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Lupus-Associated Functional Polymorphism in PNP Causes Cell Cycle Abnormalities and Interferon Pathway Activation in Human Immune Cells.

Arthritis & rheumatology (Hoboken, N.J.) - 1 Dec 2017

Ghodke-Puranik Yogita, Dorschner Jessica M, Vsetecka Danielle M, Amin Shreyasee, Makol Ashima, Ernste Floranne, Osborn Thomas, Moder Kevin, Chowdhary Vaidehi, Eliopoulos Elias, Zervou Maria I, Goulielmos George N, Jensen Mark A, Niewold Timothy B

Abstract excerpt

OBJECTIVE: Systemic lupus erythematosus (SLE) is frequently characterized by activation of the type I interferon (IFN) pathway. We previously observed that a missense single-nucleotide polymorphism (rs1049564) in the purine nucleoside phosphorylase (PNP) gene was associated with high levels of IFN in SLE. PNP is a key enzyme involved in purine metabolism. In this study, we performed functional follow-up of this...

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PMID: 28859258
DOI: 10.1002/art.40304
PMCID: PMC5711527

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