Workshop on RanBP2/Nup358 and acute necrotizing encephalopathy. Issue 1 (31st December 2022)

• Record Type: Journal Article
• Authors: Palazzo, Alexander F.; Joseph, Jomon; Lim, Ming; Thakur, Kiran T.
• Is Part Of: Nucleus. Volume 13:Issue 1(2022)
• Page Start: 154
• Page End: 169
• Publication Date: 2022-12-31
• Subjects: Nuclear pore complex -- influenza -- cytokine storm -- genetic disease -- RanBP2 -- Nup358; Cell nuclei -- Periodicals; Biology -- Periodicals; Biology; Cell nuclei; Periodicals; 571.6605
• DOI: 10.1080/19491034.2022.2069071
• Languages: English
• ISSNs: 1949-1034

Abstract

ABSTRACT: Dominant missense mutations in RanBP2/Nup358 cause Acute Necrotizing Encephalopathy (ANE), a pediatric disease where seemingly healthy individuals develop a cytokine storm that is restricted to the central nervous system in response to viral infection. Untreated, this condition leads to seizures, coma, long-term neurological damage and a high rate of mortality. The exact mechanism by which RanBP2 mutations contribute to the development of ANE remains elusive. In November 2021, a number of clinicians and basic scientists presented their work on this disease and on the interactions between RanBP2/Nup358, viral infections, the innate immune response and other cellular processes.