Výsledky vyhledávání - "Eiko Kaneshiro"

Akademický článek

Frequency of de novo mutations in Japanese patients with Fabry disease

Autor: Masahisa Kobayashi, Toya Ohashi, Sayoko Iizuka, Eiko Kaneshiro, Takashi Higuchi, Yoshikatsu Eto, Hiroyuki Ida

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 283-287 (2014)

We examined alpha-galactosidase A (GLA) gene mutations in 74 Japanese families with Fabry disease (FD) to determine the frequency of de novo mutations. In 5 of 74 families (6.8%), the probands had no positive family histories and were diagnosed as de

Externí odkaz: https://doaj.org/article/e26b6b49fe23409bbbe9314dbc294bd5

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Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease

Autor: Toya Ohashi, Hiroyuki Ida, Eiko Kaneshiro, Takashi Higuchi, Masahisa Kobayashi

Publikováno v: Journal of human genetics. 64(7)

The efficacy of pharmacological chaperone therapy for Fabry disease depends on the type of α-galactosidase A (GLA) mutations. Here, we examined the mutation spectrum of the GLA gene among patients from 115 Japanese families with Fabry disease. Of th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a307adcc3e2931579330263746c8caaf
https://pubmed.ncbi.nlm.nih.gov/30988410

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Effect of donor chimerism to reduce the level of glycosaminoglycans following bone marrow transplantation in a murine model of mucopolysaccharidosis type II

Autor: Makoto Otsu, Toya Ohashi, Hiromitsu Nakauchi, Takashi Higuchi, Kentaro Yokoi, Masaharu Akiyama, Kazumasa Akiyama, Eiko Kaneshiro, Yohta Shimada, Hiroshi Kobayashi, Hiroyuki Ida

Publikováno v: Journal of Inherited Metabolic Disease. 38:333-340

Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder caused by deficient activity of the iduronate-2-sulfatase. This leads to accumulation of glycosaminoglycans (GAGs) in the lysosomes of various cells. Although it has been proposed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e259bdbf1df1cfe048e4ce692984d2e
https://doi.org/10.1007/s10545-014-9800-x

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Frequency of de novo mutations in Japanese patients with Fabry disease

Autor: Toya Ohashi, Yoshikatsu Eto, Eiko Kaneshiro, Takashi Higuchi, Hiroyuki Ida, Sayoko Iizuka, Masahisa Kobayashi

Publikováno v: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 283-287 (2014)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::feea32a44e1995606d58f13574916928
http://europepmc.org/articles/PMC5121308

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Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: From our experience of 4 cases including an autopsy case

Autor: Masahiro Ikegami, Eiko Kaneshiro, Sandra Obikawa Kyosen, Yoshikatsu Eto, Masako Fujiwara, Masatoshi Ijima, Hiroyuki Ida, Toya Ohashi, Hiroshi Kobayashi, Makiko Osawa, Toshinao Kawai, Takashi Urashima, Ken Sakurai, Yohta Shimada, Keiko Ishigaki

Publikováno v: Molecular Genetics and Metabolism. 100:14-19

We report 4 cases of late onset glycogen storage disease type II (GSD II) or Pompe disease (OMIM # 232300 ), under enzyme replacement therapy (ERT) with recombinant human acid alpha glucosidase (rh-GAA, OMIM ∗ 606800 ). In these 4 cases, we focused

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73f503e1366d6cad7d48de00e2bd7e88
https://doi.org/10.1016/j.ymgme.2010.01.015

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Clinical and genetic study of Japanese patients with type 3 Gaucher disease

Autor: Takayuki Yokoi, Asako Tajima, Masamichi Ariga, Eiko Kaneshiro, Takeru Ito, Yoshikatsu Eto, Hiroyuki Ida

Publikováno v: Molecular Genetics and Metabolism. 97:272-277

Information on the phenotypic variations seen in patients with type 3 (chronic neuronopathic) Gaucher disease (GD) is still limited compared with type 1 GD. We retrospectively investigated the clinical features of 42 Japanese patients with type 3 GD.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03637f4f8784810609d1ff4c5611d60a
https://doi.org/10.1016/j.ymgme.2009.05.001

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Identification of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions

Autor: Takashi Higuchi, Jin Ogata, Eiko Kaneshiro, Yoshikatsu Eto, Hiroshi Kobayashi, Hiroyuki Ida, Toya Ohashi, Masahisa Kobayashi, Yohta Shimada, Shiro Maeda, Akira Ohtake

Publikováno v: JIMD Reports ISBN: 9783662536803

Anderson-Fabry (FD) disease is an inborn error of metabolism caused by a deficiency of α-galactosidase A (GLA), a lysosomal enzyme. Many male FD patients display a classic FD phenotype; however, some female patients have neither reduced leukocyte GL

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98ad563a0332f0e620e79d37d5f0a69f
https://pubmed.ncbi.nlm.nih.gov/27255140

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Endoplasmic reticulum stress induces autophagy through activation of p38 MAPK in fibroblasts from Pompe disease patients carrying c.546GT mutation

Autor: Eiko Kaneshiro, Hiromi Shimizu, Katsuhiko Aoki, Toya Ohashi, Hiroshi Kobayashi, Yoshikatsu Eto, Shiho Kawagoe, Hiroyuki Ida, Yohta Shimada

Publikováno v: Molecular genetics and metabolism. 104(4)

Pompe disease (glycogen storage disease type II) is an autosomal recessive myopathic disorder arising from the deficiency of lysosomal acid α-glucosidase (GAA). Activation of autophagy is a key pathophysiological feature in skeletal muscle fibers an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0729630b0e556bfa5882b3ce4efe0c96
https://pubmed.ncbi.nlm.nih.gov/21982629

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