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Optineurin deficiency impairs autophagy to cause interferon beta overproduction and increased survival of mice following viral infection.
Fukushi M, Ohsawa R, Okinaka Y, Oikawa D, Kiyono T, Moriwaki M, Irie T, Oda K, Kamei Y, Tokunaga F, Sotomaru Y, Maruyama H, Kawakami H, Sakaguchi T. Fukushi M, et al. Among authors: ohsawa r. PLoS One. 2023 Jun 23;18(6):e0287545. doi: 10.1371/journal.pone.0287545. eCollection 2023. PLoS One. 2023. PMID: 37352136 Free PMC article.
Optineurin defects cause TDP43-pathology with autophagic vacuolar formation.
Kurashige T, Kuramochi M, Ohsawa R, Yamashita Y, Shioi G, Morino H, Kamada M, Ayaki T, Ito H, Sotomaru Y, Maruyama H, Kawakami H. Kurashige T, et al. Among authors: ohsawa r. Neurobiol Dis. 2021 Jan;148:105215. doi: 10.1016/j.nbd.2020.105215. Epub 2020 Dec 6. Neurobiol Dis. 2021. PMID: 33296728 Free article.
Optineurin regulates osteoblastogenesis through STAT1.
Mizuno N, Iwata T, Ohsawa R, Ouhara K, Matsuda S, Kajiya M, Matsuda Y, Kume K, Tada Y, Morino H, Yoshimoto T, Ueki Y, Mihara K, Sotomaru Y, Takeda K, Munenaga S, Fujita T, Kawaguchi H, Shiba H, Kawakami H, Kurihara H. Mizuno N, et al. Among authors: ohsawa r. Biochem Biophys Res Commun. 2020 May 14;525(4):889-894. doi: 10.1016/j.bbrc.2020.03.028. Epub 2020 Mar 12. Biochem Biophys Res Commun. 2020. PMID: 32171527
Retinitis pigmentosa prior to familial ALS caused by a homozygous cilia and flagella-associated protein 410 mutation.
Kurashige T, Morino H, Matsuda Y, Mukai T, Murao T, Toko M, Kume K, Ohsawa R, Torii T, Tokinobu H, Maruyama H, Kawakami H. Kurashige T, et al. Among authors: ohsawa r. J Neurol Neurosurg Psychiatry. 2020 Feb;91(2):220-222. doi: 10.1136/jnnp-2019-321279. Epub 2019 Aug 20. J Neurol Neurosurg Psychiatry. 2020. PMID: 31431468 No abstract available.
Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia.
Matsuda Y, Morino H, Miyamoto R, Kurashige T, Kume K, Mizuno N, Kanaya Y, Tada Y, Ohsawa R, Yokota K, Shimozawa N, Maruyama H, Kawakami H. Matsuda Y, et al. Among authors: ohsawa r. Neurol Genet. 2020 Jan 16;6(1):e396. doi: 10.1212/NXG.0000000000000396. eCollection 2020 Feb. Neurol Genet. 2020. PMID: 32042923 Free PMC article.
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.
Morino H, Pierce SB, Matsuda Y, Walsh T, Ohsawa R, Newby M, Hiraki-Kamon K, Kuramochi M, Lee MK, Klevit RE, Martin A, Maruyama H, King MC, Kawakami H. Morino H, et al. Among authors: ohsawa r. Neurology. 2014 Nov 25;83(22):2054-61. doi: 10.1212/WNL.0000000000001036. Epub 2014 Oct 29. Neurology. 2014. PMID: 25355836 Free PMC article.
89 results