Contribution of the Unfolded Protein Response (UPR) to the Pathogenesis of Proteasome-Associated Autoinflammatory Syndromes (PRAAS)

• Published in: Frontiers in immunology Vol. 10; p. 2756
• Main Authors: Ebstein, Frédéric, Poli Harlowe, María Cecilia, Studencka-Turski, Maja, Krüger, Elke
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Media S.A 26.11.2019
• Subjects: autoinflammation; ER stress; Immunology; mTORC1; proteasome; TCF11/Nrf1; unfolded protein response; ER stress; autoinflammation; proteasome; unfolded protein response; TCF11/Nrf1; mTORC1

Type I interferonopathies cover a phenotypically heterogeneous group of rare genetic diseases including the recently described proteasome-associated autoinflammatory syndromes (PRAAS). By definition, PRAAS are caused by inherited and/or loss-of-function mutations in genes encoding proteasome subunit...