Workshop on RanBP2/Nup358 and acute necrotizing encephalopathy

Autor:	Alexander F. Palazzo, Jomon Joseph, Ming Lim, Kiran T. Thakur
Jazyk:	angličtina
Rok vydání:	2022
Předmět:	Nuclear pore complex influenza cytokine storm genetic disease RanBP2 Nup358 Genetics QH426-470 Cytology QH573-671
Zdroj:	Nucleus, Vol 13, Iss 1, Pp 154-169 (2022)
Druh dokumentu:	article
ISSN:	19491034 1949-1042 1949-1034
DOI:	10.1080/19491034.2022.2069071
Popis:	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.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/1c000b1d2bc4405ebf7a990e65168888 Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF Plný text ve formátu HTML
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