Research Activities

Research Group

Associate Professor

Yoshiko Murakami

I have an additional appointment in the Department of Immunoregulation as the leader of the PNH group.
(See details on the Department page).

Investigation of the pathogenesis of acquired glycosylphosphatidylinositol (GPI) deficiency, paroxysmal nocturnal hemoglobinuria (PNH).
Investigation of the pathogenesis of inherited GPI deficiency.

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.