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Roles of Nucleoporin RanBP2/Nup358 in Acute Necrotizing Encephalopathy Type 1 (ANE1) and Viral Infection.
Jiang J, Wang YE, Palazzo AF, Shen Q. Jiang J, et al. Int J Mol Sci. 2022 Mar 24;23(7):3548. doi: 10.3390/ijms23073548. Int J Mol Sci. 2022. PMID: 35408907 Free PMC article. Review.
Mutations in the RANBP2 gene are associated with acute necrotizing encephalopathy type 1 (ANE1), a rare condition where patients experience a sharp rise in cytokine production in response to viral infection and undergo hyperinflammation, …
Mutations in the RANBP2 gene are associated with acute necrotizing encephalopathy type 1 (ANE1), a …
RANBP2 evolution and human disease.
Desgraupes S, Etienne L, Arhel NJ. Desgraupes S, et al. FEBS Lett. 2023 Oct;597(20):2519-2533. doi: 10.1002/1873-3468.14749. Epub 2023 Oct 15. FEBS Lett. 2023. PMID: 37795679 Review.
Genetic Acute Necrotizing Encephalopathy Associated with RANBP2: Clinical and Therapeutic Implications in Pediatrics.
Levine JM, Ahsan N, Ho E, Santoro JD. Levine JM, et al. Mult Scler Relat Disord. 2020 Aug;43:102194. doi: 10.1016/j.msard.2020.102194. Epub 2020 May 15. Mult Scler Relat Disord. 2020. PMID: 32426208 Free PMC article. Review.
Genetic (also known as familial) acute necrotizing encephalopathy (ANE1) is a rare disease presenting with encephalopathy often following preceding viral febrile illness in patients with a genetic predisposition resulting from a missense mutation in the gene encoding RAN B …
Genetic (also known as familial) acute necrotizing encephalopathy (ANE1) is a rare disease presenting with encephalopathy often follo …
The genetic driver of Acute Necrotizing Encephalopathy, RANBP2, regulates the inflammatory response to Influenza A virus infection.
Desgraupes S, Decorsière A, Perrin S, Gouy B, Wang YE, Palazzo AF, Munier S, Arhel NJ. Desgraupes S, et al. Nat Commun. 2026 Feb 6;17(1):2427. doi: 10.1038/s41467-026-69288-1. Nat Commun. 2026. PMID: 41651846 Free PMC article.
Heterozygous dominant mutations in the nucleoporin RANBP2/Nup358 predispose to influenza-triggered ANE1. The aim of our study was to determine whether RANBP2 plays a role in IAV-triggered inflammatory responses. ...Together, our results reveal that RANBP2 regulates influen …
Heterozygous dominant mutations in the nucleoporin RANBP2/Nup358 predispose to influenza-triggered ANE1. The aim of our study was to …
Immunomodulatory therapy in recurrent acute necrotizing encephalopathy ANE1: is it useful?
Bergamino L, Capra V, Biancheri R, Rossi A, Tacchella A, Ambrosini L, Mizuguchi M, Saitoh M, Marazzi MG. Bergamino L, et al. Brain Dev. 2012 May;34(5):384-91. doi: 10.1016/j.braindev.2011.08.001. Epub 2011 Sep 25. Brain Dev. 2012. PMID: 21945312
Despite there is no evidence to support that ANE1 is an immune-mediated disease, immunomodulatory therapy might be considered in the management of ANE1 cases especially in early childhood, in which a fatal course has been frequently reported. Further studies will be …
Despite there is no evidence to support that ANE1 is an immune-mediated disease, immunomodulatory therapy might be considered in the …
Acute necrotizing encephalopathy-linked mutations in Nup358 impair interaction of Nup358 with TNRC6/GW182 and miRNA function.
Deshmukh P, Singh A, Khuperkar D, Joseph J. Deshmukh P, et al. Biochem Biophys Res Commun. 2021 Jun 25;559:230-237. doi: 10.1016/j.bbrc.2021.04.027. Epub 2021 May 4. Biochem Biophys Res Commun. 2021. PMID: 33962210
We identified that the N-terminal region of Nup358 directly interacts with the C-terminal silencing domain of GW182. Interestingly, ANE1-associated Nup358 mutants display reduced interaction with GW182. Consistent with this, one of the prevalent ANE1 mutations, 585t …
We identified that the N-terminal region of Nup358 directly interacts with the C-terminal silencing domain of GW182. Interestingly, ANE1 …
Recurrent acute necrotizing encephalopathy in a boy with RANBP2 mutation and thermolabile CPT2 variant: The first case of ANE1 in Japan.
Ohashi E, Hayakawa I, Murofushi Y, Kawai M, Suzuki-Muromoto S, Abe Y, Yoshida M, Kono N, Kosaki R, Hoshino A, Mizuguchi M, Kubota M. Ohashi E, et al. Brain Dev. 2021 Sep;43(8):873-878. doi: 10.1016/j.braindev.2021.04.009. Epub 2021 May 28. Brain Dev. 2021. PMID: 34059398
While most ANE cases are sporadic, pathogenic variants in the gene RAN binding protein 2 (RANBP2) have been identified as a major cause of familial or recurrent ANE (ANE1). Although sporadic ANE predominantly affects Asian children, ANE1 is very rare in east Asia. . …
While most ANE cases are sporadic, pathogenic variants in the gene RAN binding protein 2 (RANBP2) have been identified as a major cause of f …
Acute necrotizing encephalopathy (ANE1): rare autosomal-dominant disorder presenting as acute transverse myelitis.
Wolf K, Schmitt-Mechelke T, Kollias S, Curt A. Wolf K, et al. J Neurol. 2013 Jun;260(6):1545-53. doi: 10.1007/s00415-012-6825-7. Epub 2013 Jan 18. J Neurol. 2013. PMID: 23329376 Free article.
We present a case of a 36-year-old female patient with a rare genetic disorder (ANE1: Acute Necrotizing Encephalopathy due to a RANBP2 mutation) who presented with an acute quadriplegia. ...We propose that a redefined diagnostic workup of ATM might include ANE1, as …
We present a case of a 36-year-old female patient with a rare genetic disorder (ANE1: Acute Necrotizing Encephalopathy due to a RANBP …
RANBP2 mutation and acute necrotizing encephalopathy: 2 cases and a literature review of the expanding clinico-radiological phenotype.
Singh RR, Sedani S, Lim M, Wassmer E, Absoud M. Singh RR, et al. Eur J Paediatr Neurol. 2015 Mar;19(2):106-13. doi: 10.1016/j.ejpn.2014.11.010. Epub 2014 Dec 9. Eur J Paediatr Neurol. 2015. PMID: 25522933 Review.
We also reviewed the available literature on ANE1, including the clinical profile, MRI brain descriptions, CSF characteristics and common mutations. ...CONCLUSION: Based on the literature review of ANE1 with RANBP2 mutation, we propose a threshold for RANBP2 mutatio …
We also reviewed the available literature on ANE1, including the clinical profile, MRI brain descriptions, CSF characteristics and co …
RanBP2/Nup358 enhances miRNA activity by sumoylating Argonautes.
Shen Q, Wang YE, Truong M, Mahadevan K, Wu JJ, Zhang H, Li J, Smith HW, Smibert CA, Palazzo AF. Shen Q, et al. PLoS Genet. 2021 Feb 18;17(2):e1009378. doi: 10.1371/journal.pgen.1009378. eCollection 2021 Feb. PLoS Genet. 2021. PMID: 33600493 Free PMC article.
Mutations in RanBP2 (also known as Nup358), one of the main components of the cytoplasmic filaments of the nuclear pore complex, contribute to the overproduction of acute necrotizing encephalopathy (ANE1)-associated cytokines. Here we report that RanBP2 represses the trans …
Mutations in RanBP2 (also known as Nup358), one of the main components of the cytoplasmic filaments of the nuclear pore complex, contribute …
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