文献

J-GLOBAL ID：201502279187653863   整理番号：15A0546348

運動誘発横紋筋融解症を伴う,思春期発症極長鎖脂肪酸アシルCoAデヒドロゲナーゼ欠損におけるヘテロ接合性ミスセンス変異

A Heterozygous Missense Mutation in Adolescent-Onset Very Long-Chain Acyl-CoA Dehydrogenase Deficiency with Exercise-Induced Rhabdomyolysis

著者 (8件)： HISAHARA Shin (Dep. of Neurology, School of Medicine, Sapporo Medical Univ.) ,  MATSUSHITA Takashi (Dep. of Neurology, School of Medicine, Sapporo Medical Univ.) ,  FURUYAMA Hiroyasu (Dep. of Neurology, Sapporo Yamanoue Hospital) ,  TAJIMA Go (Dep. of Pediatrics, Hiroshima Univ. Graduate School of Biomedical Sciences & Health Sciences) ,  SHIGEMATSU Yosuke (Dep. of Health Sci., Fac. of Medical Sciences, Univ. of Fukui) ,  IMAI Tomihiro (Dep. of Neurology, School of Medicine, Sapporo Medical Univ.) ,  IMAI Tomihiro (Dep. of Occupational Therapy, School of Health Sciences, Sapporo Medical Univ.) ,  SHIMOHAMA Shun (Dep. of Neurology, School of Medicine, Sapporo Medical Univ.)
資料名： Tohoku Journal of Experimental Medicine  (Tohoku Journal of Experimental Medicine)
巻： 235  号： 4  ページ： 305-310 (J-STAGE)  発行年： 2015年 
JST資料番号： G0649A  ISSN： 0040-8727  CODEN： TJEMAO  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： 日本 (JPN)  言語： 英語 (EN)

抄録/ポイント： 超長鎖脂肪酸アシル-CoAデヒドロゲナーゼ(VLCAD)欠損...

シソーラス用語： ヒト ,...
準シソーラス用語： ヘテロ接合性ミスセンス変異 ,...

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分類 (2件)： 代謝異常・栄養性疾患一般  (GD05010J) ,  運動器系の疾患  (GG03000T)

引用文献 (28件)：

• Andresen, B.S., Bross, P., Vianey-Saban, C., Divry, P., Zabot, M.T., Roe, C.R., Nada, M.A., Byskov, A., Kruse, T.A., Neve, S., Kristiansen, K., Knudsen, I., Corydon, M.J. & Gregersen, N. (1996) Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene. <i>Hum. Mol. Genet.</i>, 5, 461-472.
• Andresen, B.S., Olpin, S., Poorthuis, B.J., Scholte, H.R., Vianey-Saban, C., Wanders, R., Ijlst, L., Morris, A., Pourfarzam, M., Bartlett, K., Baumgartner, E.R., deKlerk, J.B., Schroeder, L.D., Corydon, T.J., Lund, H., et al. (1999) Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am. J. Hum. Genet., 64, 479-494.
• Aoyama, T., Souri, M., Ushikubo, S., Kamijo, T., Yamaguchi, S., Kelley, R.I., Rhead, W.J., Uetake, K., Tanaka, K. & Hashimoto, T. (1995) Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. <i>J. Clin. Invest.</i>, 95, 2465-2473.
• Aoyama, T., Uchida, Y., Kelley, R.I., Marble, M., Hofman, K., Tonsgard, J.H., Rhead, W.J. & Hashimoto, T. (1993) A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase. <i>Biochem. Biophys. Res. Commun.</i>, 191, 1369-1372.
• Aoyama, T., Ueno, I., Kamijo, T. & Hashimoto, T. (1994) Rat very-long-chain acyl-CoA dehydrogenase, a novel mitochondrial acyl-CoA dehydrogenase gene product, is a rate-limiting enzyme in long-chain fatty acid beta-oxidation system. cDNA and deduced amino acid sequence and distinct specificities of the cDNA-expressed protein. <i>J. Biol. Chem.</i>, 269, 19088-19094.

タイトルに関連する用語 (9件)： 運動 ,  誘発 ,  横紋筋融解症 ,  発症 ,  極長鎖脂肪酸 ,  アシルCoAデヒドロゲナーゼ ,  欠損 ,  ヘテロ接合性 ,  ミスセンス変異