Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Makiko, Tajika"'
Autor:
Yohei Sugiyama, Taijiro Watanabe, Makiko Tajika, Tetsuro Matsuhashi, Masaru Shimura, Takuya Fushimi, Keiko Ichimoto, Ayako Matsunaga, Tomohiro Ebihara, Tomoko Tsuruoka, Tomoyuki Akiyama, Kei Murayama
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background Hypophosphatasia (HPP) is a rare inherited metabolic disorder caused by mutations in the ALPL gene, which encodes tissue nonspecific alkaline phosphatase. The severity of HPP is widely diverse from the perinatal form to the adult
Externí odkaz:
https://doaj.org/article/2b65bd7638f440329db877967df91b85
Autor:
Tomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, Tomoko Tsuruoka, Yoshiteru Osone, Masaru Shimura, Makiko Tajika, Keiko Ichimoto, Yuki Naruke, Nana Akiyama, Sze Chern Lim, Yukiko Yatsuka, Kazuhiro R. Nitta, Yoshihito Kishita, Takuya Fushimi, Atsuko Okazaki, Akira Ohtake, Yasushi Okazaki, Kei Murayama
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100912- (2022)
Biallelic deletions extending into the ATPase family AAA-domain containing protein 3A (ATAD3A) gene lead to infantile lethality with severe pontocerebellar hypoplasia (PCH). However, only 12 such cases have been reported worldwide to date, and the ge
Externí odkaz:
https://doaj.org/article/188d708aee554ecca9d11c314c2a3186
Autor:
Yohei Sugiyama, Masaru Shimura, Minako Ogawa-Tominaga, Tomohiro Ebihara, Yoshina Kinouchi, Keitaro Isozaki, Tetsuro Matsuhashi, Makiko Tajika, Takuya Fushimi, Keiko Ichimoto, Ayako Matsunaga, Tomoki Ishida, Kayo Mizutani, Tomoko Tsuruoka, Kei Murayama
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100622- (2020)
The detoxification of ammonia to urea requires a functional hepatic urea cycle, which consists of six enzymes and two mitochondrial membrane transporters. The initial step of the urea cycle is catalyzed by carbamyl phosphate synthetase 1 (CPS1). CPS1
Externí odkaz:
https://doaj.org/article/4ab7b91a4a3843bd95de10972dbae688
Autor:
Keiko Ichimoto, Tomoo Fujisawa, Masaru Shimura, Takuya Fushimi, Makiko Tajika, Ayako Matsunaga, Minako Ogawa-Tominaga, Nana Akiyama, Yuki Naruke, Hiroshi Horie, Tokiko Fukuda, Hideo Sugie, Ayano Inui, Kei Murayama
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100601- (2020)
Glycogen storage disease type IV (GSD IV) is a rare inborn metabolic disorder characterized by the accumulation of amylopectin-like glycogen in the liver or other organs. The hepatic subtype may appear normal at birth but rapidly develops to liver ci
Externí odkaz:
https://doaj.org/article/9e938f07756140a19a8f3e32e1aead92
Autor:
Masaru Shimura, Takanori Onuki, Yohei Sugiyama, Tetsuro Matsuhashi, Tomohiro Ebihara, Takuya Fushimi, Makiko Tajika, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Kazuhiro R Nitta, Atsuko Imai-Okazaki, Yukiko Yatsuka, Yoshihito Kishita, Akira Ohtake, Yasushi Okazaki, Kei Murayama
Publikováno v:
Mitochondrion. 63:1-8
The m.14453G A mutation in MT-ND6 has been described in a few patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes or Leigh syndrome.However, the clinical spectrum and molecular characteristics are unclear.Here, we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1f23be9bf011a6d9c7d54e720258e30
https://doi.org/10.1016/j.mito.2021.12.005
https://doi.org/10.1016/j.mito.2021.12.005
Autor:
Tomohiro Ebihara, Yohei Sugiyama, Taro Nagatomo, Keiko Ichimoto, Makiko Tajika, Minako Ogawa-Tominaga, Nana Akiyama, Yasushi Okazaki, Kei Murayama, Atsuko Imai-Okazaki, Takuya Fushimi, Yukiko Yatsuka, Masaru Shimura, Kazuhiro R. Nitta, Yoshiteru Osone, Tetsuro Matsuhashi, Yoshihito Kishita, Akira Ohtake, Tomoko Tsuruoka, Ayako Matsunaga
Publikováno v:
Archives of Disease in Childhood - Fetal and Neonatal Edition. 107:329-334
ObjectiveNeonatal-onset mitochondrial disease has not been fully characterised owing to its heterogeneity. We analysed neonatal-onset mitochondrial disease in Japan to clarify its clinical features, molecular diagnosis and prognosis.DesignRetrospecti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61126e287ca7b704b556155494de5de1
https://doi.org/10.1136/archdischild-2021-321633
https://doi.org/10.1136/archdischild-2021-321633
Autor:
Takuya Fushimi, Atsuhito Takeda, Shuko Nojiri, Hiroko Harashima, Kazuhiro R. Nitta, Masakazu Kohda, Ayako Matsunaga, Yasushi Okazaki, Yasushi Sakata, Akira Ohtake, Minako Ogawa-Tominaga, Makiko Tajika, Tetsuro Matsuhashi, Akihiro Nakaya, Tomoko Hirata, Yohei Sugiyama, Ayumu Sugiura, Kei Murayama, Tomohiro Ebihara, Keiko Ichimoto, Atsuko Imai-Okazaki, Masaru Shimura, Yoshihito Kishita, Yukiko Yatsuka, Tomoko Tsuruoka, Shigetoyo Kogaki
Publikováno v:
International Journal of Cardiology. 341:48-55
BACKGROUND Cardiomyopathy is a risk factor for poor prognosis in pediatric patients with mitochondrial disease. However, other risk factors including genetic factors related to poor prognosis in mitochondrial disease has yet to be fully elucidated. M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02329003d97299262a55193c38a5e59e
https://doi.org/10.1016/j.ijcard.2021.06.042
https://doi.org/10.1016/j.ijcard.2021.06.042
Autor:
Tomoko Tsuruoka, Atsuko Imai-Okazaki, Akira Ohtake, Makiko Tajika, Minako Ogawa-Tominaga, Masaru Shimura, Taro Yamazaki, Ayako Matsunaga, Yasushi Okazaki, Erika Ogawa, Yoshihito Kishita, Takuya Fushimi, Keiko Ichimoto, Ichiro Morioka, Kei Murayama, Tatsuo Fuchigami, Masakazu Kohda, Mika Ishige
Publikováno v:
Journal of Inherited Metabolic Disease
Leigh syndrome is a major phenotype of mitochondrial diseases in children. With new therapeutic options being proposed, assessing the mortality and clinical condition of Leigh syndrome patients is crucial for evaluating therapeutics. As data are scar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42667402b7f0e5fa724eac04733ed19b
https://doi.org/10.1002/jimd.12218
https://doi.org/10.1002/jimd.12218
Autor:
Makiko Tajika, Takuya Fushimi, Masaru Shimura, Taijiro Watanabe, Tomohiro Ebihara, Keiko Ichimoto, Tomoko Tsuruoka, Tetsuro Matsuhashi, Tomoyuki Akiyama, Ayako Matsunaga, Kei Murayama, Yohei Sugiyama
BackgroundHypophosphatasia (HPP) is a rare inherited metabolic disorder caused by mutations in the ALPL gene, which encodes tissue nonspecific alkaline phosphatase. The phenotype of HPP is widely diverse from the perinatal severe form to the adult mi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::18b62679ebd5cc835dbbe6af60398208
https://doi.org/10.21203/rs.3.rs-718059/v1
https://doi.org/10.21203/rs.3.rs-718059/v1
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