Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Ayako MATSUNAGA"'
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:
Mizuki Kobayashi, Yuichi Suzuki, Maki Nodera, Ayako Matsunaga, Masakazu Kohda, Yasushi Okazaki, Kei Murayama, Takanori Yamagata, Hitoshi Osaka
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-3 (2022)
Abstract Biotin-responsive basal ganglia disease (BBGD) with SLC19A3 mutation was first reported in 1998, and over 30 mutations have been reported. We report a neonatal BBGD case with sudden-onset feeding difficulty and impaired consciousness. Enceph
Externí odkaz:
https://doaj.org/article/db0f904f9c1c400dad254b89483a2bdf
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan
Autor:
Nana Akiyama, Masaru Shimura, Taro Yamazaki, Hiroko Harashima, Takuya Fushimi, Tomoko Tsuruoka, Tomohiro Ebihara, Keiko Ichimoto, Ayako Matsunaga, Megumi Saito-Tsuruoka, Yukiko Yatsuka, Yoshihito Kishita, Masakazu Kohda, Akira Namba, Yoshimasa Kamei, Yasushi Okazaki, Shinji Kosugi, Akira Ohtake, Kei Murayama
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
Abstract Prenatal diagnoses of mitochondrial diseases caused by defects in nuclear DNA (nDNA) or mitochondrial DNA have been reported in several countries except for Japan. The present study aimed to clarify the status of prenatal genetic diagnosis o
Externí odkaz:
https://doaj.org/article/155589ae842344c1bf48522b1d15cb79
Autor:
Masaru Shimura, Naomi Kuranobu, Minako Ogawa-Tominaga, Nana Akiyama, Yohei Sugiyama, Tomohiro Ebihara, Takuya Fushimi, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Yoshihito Kishita, Shuichiro Umetsu, Ayano Inui, Tomoo Fujisawa, Ken Tanikawa, Reiko Ito, Akinari Fukuda, Jun Murakami, Shunsaku Kaji, Mureo Kasahara, Kazuo Shiraki, Akira Ohtake, Yasushi Okazaki, Kei Murayama
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Abstract Background Hepatocerebral mitochondrial DNA depletion syndrome (MTDPS) is a disease caused by defects in mitochondrial DNA maintenance and leads to liver failure and neurological complications during infancy. Liver transplantation (LT) remai
Externí odkaz:
https://doaj.org/article/e45f0df00481472298ff7a0e4c4c93cf
Autor:
Nana Akiyama, Masaru Shimura, Taro Yamazaki, Hiroko Harashima, Takuya Fushimi, Tomoko Tsuruoka, Tomohiro Ebihara, Keiko Ichimoto, Ayako Matsunaga, Megumi Saito-Tsuruoka, Yukiko Yatsuka, Yoshihito Kishita, Masakazu Kohda, Akira Namba, Yoshimasa Kamei, Yasushi Okazaki, Shinji Kosugi, Akira Ohtake, Kei Murayama
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-2 (2021)
Externí odkaz:
https://doaj.org/article/70a42ea93a774ef6885c77b549ac60e9
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:
Tomonori Suyama, Masaru Shimura, Takuya Fushimi, Naomi Kuranobu, Keiko Ichimoto, Ayako Matsunaga, Masaki Takayanagi, Kei Murayama
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100610- (2020)
Mitochondrial trifunctional protein (TFP) deficiency is a rare inherited metabolic disorder caused by defects in fatty acid β-oxidation (FAO) of long-chain fatty acids, leading to impaired energy production. Fasting avoidance, fatty acid-restricted
Externí odkaz:
https://doaj.org/article/0726746abbe641609cf7bcdb0d288573
Autor:
Tadashi HOSHINO, Tadashi ISHIHARA, Hiroshi OKADA, Ayako MATSUNAGA, Masahiro TSUBURA, Ryo TANABE, Sho KIMURA, Naruhiko ISHIWADA, Hiromichi NAKAJIMA
Publikováno v:
Kansenshogaku Zasshi. 97:18-25
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0a149ed8b2d1d540490149dfd41885ec
https://doi.org/10.11150/kansenshogakuzasshi.e22030
https://doi.org/10.11150/kansenshogakuzasshi.e22030
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