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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 …
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 Free article. Review.
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 …
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Shashi V, Schoch K, Ganetzky R, Kranz PG, Sondheimer N, Markert ML, Cope H, Sadeghpour A, Roehrs P, Arbogast T, Muraresku C; Undiagnosed Diseases Network; Tyndall AV, Esser MJ, Woodward KE, Ping-Yee Au B, Parboosingh JS, Lamont RE, Bernier FP, Wright NAM, Benseler SM, Parsons SJ, El-Dairi M, Smith EC, Valdez P, Tennison M, Innes AM, Davis EE. Shashi V, et al. Genet Med. 2023 Sep;25(9):100897. doi: 10.1016/j.gim.2023.100897. Epub 2023 May 13. Genet Med. 2023. PMID: 37191094 Free PMC article.
PURPOSE: Mendelian etiologies for acute encephalopathies in previously healthy children are poorly understood, with the exception of RAN binding protein 2 (RANBP2)-associated acute necrotizing encephalopathy subtype 1 (ANE1). We provide clinical, genetic, and neuroradiolog …
PURPOSE: Mendelian etiologies for acute encephalopathies in previously healthy children are poorly understood, with the exception of RAN bin …
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 …
Familial acute necrotizing encephalopathy due to mutation in the RANBP2 gene.
Denier C, Balu L, Husson B, Nasser G, Burglen L, Rodriguez D, Labauge P, Chevret L. Denier C, et al. J Neurol Sci. 2014 Oct 15;345(1-2):236-8. doi: 10.1016/j.jns.2014.07.025. Epub 2014 Jul 18. J Neurol Sci. 2014. PMID: 25128471
While most ANE are sporadic, familial autosomal dominant ANE due to mutations in the RANBP2 gene has been recently reported (ANE1 or infection-induced acute encephalopathy-3 (IIAE3)). To date, only few IIAE3 families with ADANE episodes have been described. ...
While most ANE are sporadic, familial autosomal dominant ANE due to mutations in the RANBP2 gene has been recently reported (ANE1 or …
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 …
A novel variation in RANBP2 associated with infection-triggered familial acute necrotizing encephalopathy.
Hu Y, Tian Z, Zhao B, Dong C, Cao L. Hu Y, et al. Neurol Sci. 2022 Jun;43(6):3973-3977. doi: 10.1007/s10072-022-06033-8. Epub 2022 Mar 28. Neurol Sci. 2022. PMID: 35348941
Familial and recurrent ANE is referred to as ANE1. A four-generation Chinese family with ANE1 was recruited for genetic analysis. A novel missense variation, c.9041A > G, p....This study is the first to identify a novel variation in RANBP2 in a Chinese family wit …
Familial and recurrent ANE is referred to as ANE1. A four-generation Chinese family with ANE1 was recruited for genetic analys …
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 …
21 results