Workshop on RanBP2/Nup358 and acute necrotizing encephalopathy.

Nucleus

Department of Neurology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, and the New York Presbyterian Hospital, New York.

Published: December 2022

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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9067512PMC
http://dx.doi.org/10.1080/19491034.2022.2069071DOI Listing

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