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Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4

Adriana A. de Jesus, Anja Brehm, Rachel VanTries, Pascal Pillet, Anne-Sophie Parentelli, Gina A. Montealegre Sanchez, Zuoming Deng, I. Koné Paut, Raphaela Goldbach‐Mansky, Elke Krüger

Journal of Allergy and Clinical Immunology · 2019 · 107 citations · 19 references

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19

Activated STING in a Vascular and Pulmonary Syndrome

Adriana A. de Jesus, Bernadette Marrero, Dan Yang et al. · New England Journal of Medicine · 2014 · 1.3K citations · Full text

Immunoproteasomes Preserve Protein Homeostasis upon Interferon-Induced Oxidative Stress

Ulrike Seifert, Frédéric Ebstein, Dawadschargal Bech‐Otschir et al. · Cell · 2010 · 537 citations · Full text

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JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies

Gina A. Montealegre Sanchez, Adam Reinhardt, Suzanne Ramsey et al. · Journal of Clinical Investigation · 2018 · 496 citations · Full text

Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity

Yin Liu, Yuval Ramot, Antonio Torrelo et al. · Arthritis & Rheumatism · 2011 · 395 citations

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

Anja Brehm, Yin Liu, Afzal Sheikh et al. · Journal of Clinical Investigation · 2015 · 330 citations · Full text

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