免疫不全疾患研究分野を兼任し、paroxysmal nocturnal hemoglobinuria (PNH)グループのリーダーとして以下の研究をしている。（詳細は上記研究室のページ参照）
- 後天性 glycosylphosphatidylinositol (GPI) 欠損症（発作性夜間血色素尿症PNH）の発症機序
- 先天性GPI欠損症のスクリーニングと発症機序の解明
研究グループ
| 准教授 | 村上 良子 |
研究室ホームページ
研究内容
最近の代表的な論文
- M. Kato* H. Saitsu* Y. Murakami* K. Kikuchi, Watanabe, M. Iai, K. Miya, R. Matsuura, R. Takayama, C. Ohba, M. Nakashima,Y. Tsurusaki, N. Miyake, S. Hamano, H. Osaka, K. Hayasaka, T. Kinoshita, N. Matsumoto. PIGA mutations cause early-onset epileptic enceohalopathies and distinctive features. Neurology. 2014 in press (*equally contribution).
- Howard MF* Murakami Y* Pagnamenta AT, Haas CD, Fischer B, Hecht J, Keays DA, Knight SJL, Kölsch U, Krüger U, Leiz S, Maeda Y, Mitchell D, Mundlos S, Philipps JA, Robinson PN, Kini U, Taylor JC, Horn D, Kinoshita T, Krawitz PM. Mutations in PGAP3 impair GPI-anchor maturation and lead to intellectual disability with hyperphosphatasia and additional phenotypic features. Am J Hum Genet. 2014;94(2)278-87(*equally contribution).
- Chiyonobu T, Inoue N, Morimoto M, Kinoshita T, Murakami Y. Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome. J Med Genet. 2014; 51(3): 203-7.
- Kuki, I., Y. Takahashi, Okazaki, Ebara, N. Inoue, T. Kinoshita, Y. Murakami. Case report with vitamin B6 responsive epilepsy due to inherited GPI deficiency. Neurology. 2013;81(16):1467-9.
- Murakami Y, Inoue N, Shichishima T, Ohta R, Noji H, Maeda Y, Nishimura J, Kanakura Y, Kinoshita T. Deregulated expression of HMGA2 is implicated in clonal expansion of PIGA deficient cells in paroxysmal nocturnal haemoglobinuria. Br J Haematol. 2012 Feb;156(3):383-7.