Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Eriko F Jimbo"'
Autor:
Mizuki Kobayashi, Akihiko Miyauchi, Eriko F. Jimbo, Natsumi Oishi, Shiho Aoki, Miyuki Watanabe, Yasushi Yoshikawa, Yutaka Akiyama, Takanori Yamagata, Hitoshi Osaka
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract Mitochondrial diseases are mainly caused by dysfunction of mitochondrial respiratory chain complexes and have a variety of genetic variants or phenotypes. There are only a few approved treatments, and fundamental therapies are yet to be deve
Externí odkaz:
https://doaj.org/article/e4636980387a48a3b5392e1c6ad4f86d
Autor:
Ayumi Matsumoto, Makoto Mizuno, Nanako Hamada, Yasuyuki Nozaki, Eriko F Jimbo, Mariko Y Momoi, Koh-ichi Nagata, Takanori Yamagata
Publikováno v:
PLoS ONE, Vol 9, Iss 3, p e92695 (2014)
Interstitial deletion of 12q21 has been reported in four cases, which share several common clinical features, including intellectual disability (ID), low-set ears, and minor cardiac abnormalities. Comparative genomic hybridization (CGH) analysis usin
Externí odkaz:
https://doaj.org/article/04dce0fe940046a5809f7fae1020f0e1
Autor:
Akihiko Miyauchi, Chika Watanabe, Naoya Yamada, Eriko F. Jimbo, Mizuki Kobayashi, Natsumi Ohishi, Atsuko Nagayoshi, Shiho Aoki, Yoshihito Kishita, Akira Ohtake, Nobuhiko Ohno, Masafumi Takahashi, Takanori Yamagata, Hitoshi Osaka
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract Originally, apomorphine was a broad-spectrum dopamine agonist with an affinity for all subtypes of the Dopamine D1 receptor to the D5 receptor. We previously identified apomorphine as a potential therapeutic agent for mitochondrial diseases
Externí odkaz:
https://doaj.org/article/4c4ab5e04fb84b9b860c3d9589244955
Autor:
Karin Kojima, Takahito Wada, Hiroko Shimbo, Takahiro Ikeda, Eriko F. Jimbo, Hirotomo Saitsu, Naomichi Matsumoto, Takanori Yamagata
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-4 (2022)
Abstract The ATRX variant c.21-1G>A was detected by an exome analysis of a patient with Cockayne syndrome without alpha thalassemia X-linked intellectual disability syndrome (ATR-XS). In addition, variants in ERCC6 were detected. ATRX c.21-1G>A is lo
Externí odkaz:
https://doaj.org/article/0e8b6c11d10d4478806d1488eb8610f0
Autor:
Chika Watanabe, Hitoshi Osaka, Miyuki Watanabe, Akihiko Miyauchi, Eriko F. Jimbo, Takeshi Tokuyama, Hideki Uosaki, Yoshihito Kishita, Yasushi Okazaki, Takanori Onuki, Tomohiro Ebihara, Kenichi Aizawa, Kei Murayama, Akira Ohtake, Takanori Yamagata
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 34, Iss , Pp 100951- (2023)
Coenzyme Q10 (CoQ10) is involved in ATP production through electron transfer in the mitochondrial respiratory chain complex. CoQ10 receives electrons from respiratory chain complex I and II to become the reduced form, and then transfers electrons at
Externí odkaz:
https://doaj.org/article/3d16e4198f7d49d399b9dffcfcdfd7dc
Autor:
Yuki Takayanagi, Yoshie Kurokawa, Eriko F. Jimbo, Hitoshi Osaka, Shin-ichi Muramatsu, Kazuhiro Muramatsu, Sachie Nakamura, Tatsushi Onaka, Takeshi Kouga, Takanori Yamagata
Publikováno v:
Human Gene Therapy
Niemann–Pick disease type C1 (NPC1) is a fatal congenital neurodegenerative disorder caused by mutations in the NPC1 gene, which is involved in cholesterol transport in lysosomes. Broad clinical manifestations of NPC1 include liver failure, pulmona
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43b112d0dd93cce581b1cd2df58136d7
http://europepmc.org/articles/PMC8236559
http://europepmc.org/articles/PMC8236559
Autor:
Hitoshi Osaka, Takeshi Kouga, Takaaki Abe, Eriko F. Jimbo, Takanori Yamagata, Akihiko Miyauchi, Tetsuro Matsuhashi
Publikováno v:
Mitochondrion. 49:111-120
Mitochondrial disease is a genetic disorder in which individuals suffer from energy insufficiency. The various clinical phenotypes of mitochondrial disease include Leigh syndrome (LS), myopathy encephalopathy lactic acidosis and stroke-like episodes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::525bb96ab610c52514bd483943af0019
https://doi.org/10.1016/j.mito.2019.07.006
https://doi.org/10.1016/j.mito.2019.07.006
Autor:
Takanori Yamagata, Hitoshi Osaka, Narumi Omika, Kenji Kurosawa, Makiko Tajika, Masaru Shimura, Kazuhiro Muramatsu, Mari Kuwajima, Eriko F. Jimbo, Hiroko Shimbo, Kei Murayama, Koyuru Kurane, Masahide Goto
Publikováno v:
Brain and Development. 41:465-469
Mutations in the mitochondrial tRNAMet gene have been reported in only five patients to date, all of whom presented with muscle weakness and exercise intolerance as signs of myopathy. We herein report the case of a 12-year-old girl with focal epileps
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f4198da67f3e343f8fcfd6ca7ad82b34
https://doi.org/10.1016/j.braindev.2019.01.006
https://doi.org/10.1016/j.braindev.2019.01.006
Autor:
Sumimasa Yamashita, Moe Tamaura, Tomohide Goto, Noriko Aida, Mizue Iai, Janyerkye Tulyeu, Etsuro Tokuhiro, Hitoshi Osaka, Eriko F. Jimbo, Hiroko Shimbo, Takanori Yamagata, Kyoko Takano
Publikováno v:
Brain and Development. 41:195-200
Alexander disease (AxD) is a neurodegenerative disease in astrocytes caused by a mutation in the gene encoding glial fibrillary acidic protein, GFAP. We herein present the case of a 12-year-old girl who showed intermittent exotropia at 3 years of age
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6ca62872e7ab0ef424992451ad4e233e
https://doi.org/10.1016/j.braindev.2018.08.009
https://doi.org/10.1016/j.braindev.2018.08.009
Autor:
Hitoshi Osaka, Naomi Takino, Shuji Hishikawa, Eriko F. Jimbo, Takanori Yamagata, Chika Watanabe, Mika Ito, Shin-ichi Muramatsu, Takeshi Nakajima, Sachie Nakamura
Publikováno v:
Gene therapy. 28(6)
Glucose transporter 1 deficiency syndrome (GLUT1DS) is caused by haplo-insufficiency of SLC2A1, which encodes GLUT1, resulting in impaired hexose transport into the brain. Previously, we generated a tyrosine-mutant AAV9/3 vector in which SLC2A1 was e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a1d2d2d228b8acc8af6a0309f55a751
https://pubmed.ncbi.nlm.nih.gov/33077933
https://pubmed.ncbi.nlm.nih.gov/33077933