Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Ryosuke Ohsawa"'
Autor:
Masaya Fukushi, Ryosuke Ohsawa, Yasushi Okinaka, Daisuke Oikawa, Tohru Kiyono, Masaya Moriwaki, Takashi Irie, Kosuke Oda, Yasuhiro Kamei, Fuminori Tokunaga, Yusuke Sotomaru, Hirofumi Maruyama, Hideshi Kawakami, Takemasa Sakaguchi
Publikováno v:
PLoS ONE, Vol 18, Iss 6, p e0287545 (2023)
BackgroundOptineurin (OPTN) is associated with several human diseases, including amyotrophic lateral sclerosis (ALS), and is involved in various cellular processes, including autophagy. Optineurin regulates the expression of interferon beta (IFNβ),
Externí odkaz:
https://doaj.org/article/f5b455a33f0c4fe19378e93d6477d841
Autor:
Kodai Kume, Hiroyuki Morino, Ryosuke Miyamoto, Yukiko Matsuda, Ryosuke Ohsawa, Yuhei Kanaya, Yui Tada, Takashi Kurashige, Hideshi Kawakami
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-4 (2020)
Abstract Background The TWNK gene encodes the twinkle protein, which is a mitochondrial helicase for DNA replication. The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, while
Externí odkaz:
https://doaj.org/article/22f05a9c7cd84ecea5a2659576d84a38
Autor:
Takashi Kurashige, Masahito Kuramochi, Ryosuke Ohsawa, Yui Yamashita, Go Shioi, Hiroyuki Morino, Masaki Kamada, Takashi Ayaki, Hidefumi Ito, Yusuke Sotomaru, Hirofumi Maruyama, Hideshi Kawakami
Publikováno v:
Neurobiology of Disease, Vol 148, Iss , Pp 105215- (2021)
We previously showed that optineurin (OPTN) mutations lead to the development of amyotrophic lateral sclerosis. The association between OPTN mutations and the pathogenesis of amyotrophic lateral sclerosis remains unclear. To investigate the mechanism
Externí odkaz:
https://doaj.org/article/190dffdfc2224b6d86b31a6626a887da
Autor:
Tsuyoshi Torii, Hirofumi Maruyama, Ryosuke Ohsawa, Yuhei Kanaya, Yuishin Izumi, Hiroyuki Morino, Kodai Kume, Masaki Kamada, Hideshi Kawakami, Takashi Kurashige
Publikováno v:
Journal of Human Genetics. 66:957-964
Parkinson’s disease (PD) is caused by a combination of genetic and environmental factors. Notably, genetic risk factors vary according to ethnicity and geographical regions, and few studies have analyzed the frequency of PD causative genes in Japan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e600617856a8c4c6584336bf9d2d72be
https://doi.org/10.1038/s10038-021-00910-4
https://doi.org/10.1038/s10038-021-00910-4
Autor:
Sangita Pal, Hillary Graves, Ryosuke Ohsawa, Ting-Hsiang Huang, Pingping Wang, Laura Harmacek, Jessica Tyler
Publikováno v:
PLoS ONE, Vol 11, Iss 5, p e0155409 (2016)
Much of our understanding of the function of histone post-translational modifications in metazoans is inferred from their genomic localization and / or extrapolated from yeast studies. For example, acetylation of histone H3 lysine 56 (H3 K56Ac) is as
Externí odkaz:
https://doaj.org/article/aa08cb641812493292173cfa07b145e1
Autor:
Ryosuke Ohsawa, Yui Tada, Tadayuki Takata, Hiroyuki Morino, Kodai Kume, Takashi Kurashige, Yukiko Matsuda, Hideshi Kawakami
Publikováno v:
Journal of Human Genetics. 65:917-920
Primary familial brain calcification (PFBC) is a hereditary neurological disorder characterized by idiopathic calcification of the bilateral basal ganglia and other areas of the brain. MYORG has been identified as the first causative gene of autosoma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e911705a149a3d6b5ab18723a4940728
https://doi.org/10.1038/s10038-020-0779-x
https://doi.org/10.1038/s10038-020-0779-x
Autor:
Yui Tada, Toshihiko Suenaga, Ryosuke Ohsawa, Hideshi Kawakami, Yukiko Matsuda, Akira Kakizuka, Hayato Tabu, Yuhei Kanaya, Satoshi Kaneko, Hiroyuki Morino, Takashi Kurashige, Kodai Kume
Publikováno v:
Journal of Human Genetics. 65:363-369
Spinocerebellar ataxia (SCA) is a genetically heterogeneous disease characterized by cerebellar ataxia. Many causative genes have been identified to date, the most common etiology being the abnormal expansion of repeat sequences, and the mutation of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f9abbaaca2c093b3a15c521b6e254f38
https://doi.org/10.1038/s10038-019-0717-y
https://doi.org/10.1038/s10038-019-0717-y
Autor:
Masaki Kamada, Takashi Ayaki, Hiroyuki Morino, Ryosuke Ohsawa, Yui Yamashita, Go Shioi, Yusuke Sotomaru, Hirofumi Maruyama, Masahito Kuramochi, Hideshi Kawakami, Takashi Kurashige, Hidefumi Ito
Publikováno v:
Neurobiology of Disease, Vol 148, Iss, Pp 105215-(2021)
We previously showed that optineurin (OPTN) mutations lead to the development of amyotrophic lateral sclerosis. The association between OPTN mutations and the pathogenesis of amyotrophic lateral sclerosis remains unclear. To investigate the mechanism
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4296b4babe3f285191b0c5331afee5ac
http://www.sciencedirect.com/science/article/pii/S0969996120304903
http://www.sciencedirect.com/science/article/pii/S0969996120304903
Autor:
Kodai, Kume, Tadayuki, Takata, Hiroyuki, Morino, Yukiko, Matsuda, Ryosuke, Ohsawa, Yui, Tada, Takashi, Kurashige, Hideshi, Kawakami
Publikováno v:
Journal of human genetics. 65(10)
Primary familial brain calcification (PFBC) is a hereditary neurological disorder characterized by idiopathic calcification of the bilateral basal ganglia and other areas of the brain. MYORG has been identified as the first causative gene of autosoma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ac71ddf1556aa851d88cbebe37d85ec9
https://pubmed.ncbi.nlm.nih.gov/32451491
https://pubmed.ncbi.nlm.nih.gov/32451491
Autor:
Katsuhiro Takeda, Hideshi Kawakami, Yasuyoshi Ueki, Yusuke Sotomaru, Shinji Matsuda, Tetsuya Yoshimoto, Keichiro Mihara, Yui Tada, Noriyoshi Mizuno, Ryosuke Ohsawa, Hiroyuki Kawaguchi, Hideki Shiba, Hiroyuki Morino, Tomoyuki Iwata, Mikihito Kajiya, Syuichi Munenaga, Kodai Kume, Hidemi Kurihara, Tsuyoshi Fujita, Kazuhisa Ouhara, Yukiko Matsuda
Publikováno v:
Biochemical and biophysical research communications. 525(4)
A sophisticated and delicate balance between bone resorption by osteoclasts and bone formation by osteoblasts regulates bone metabolism. Optineurin (OPTN) is a gene involved in primary open-angle glaucoma and amyotrophic lateral sclerosis. Although i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e3f3b11a5b29c9ddbc7787b07aeff82
https://pubmed.ncbi.nlm.nih.gov/32171527
https://pubmed.ncbi.nlm.nih.gov/32171527