Research Promotion Group, Combined Program on Microbiology and Immunology

Staff:

Associate Professor

Yoshiko Murakami, M.D., Ph.D.

Subjects:

1. Investigation of the pathogenesis of PNH;
2. Investigation of the pathogeneses of inherited glycosylphosphatidylinositol(GPI) deficiencies(IGD)
3. Molecular biology of biosynthesis pathway of GPI-anchored proteins.

Papers published in 2015

1. Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.

   Biljana Ilkovski, Alistair T Pagnamenta, Gina L O'Grady, Taroh Kinoshita, Malcolm F Howard, Monkol Lek, Brett Thomas, Anne Turner, John Christodoulou, David Sillence, Samantha J L Knight, Niko Popitsch, David A Keays, Consuelo Anzilotti, Anne Goriely, Leigh B Waddell, Fabienne Brilot, Kathryn N North, Noriyuki Kanzawa, Daniel G Macarthur, Jenny C Taylor, Usha Kini, Yoshiko Murakami and Nigel F Clarke

   Hum Mol Genet, 24 (21), 6146-6159, 2015.
2. Post-Golgi anterograde transport requires GARP-dependent endosome-to-TGN retrograde transport.

   Tetsuya Hirata, Morihisa Fujita, Shota Nakamura, Kazuyoshi Gotoh, Daisuke Motooka, Yoshiko Murakami, Yusuke Maeda and Taroh Kinoshita

   Mol Biol Cell, 26 (17), 3071-3084, 2015.
3. Cerebral visual impairment and intellectual disability caused by PGAP1 variants.

   Daniëlle G M Bosch, F Nienke Boonstra, Taroh Kinoshita, Shalini Jhangiani, Joep de Ligt, Frans P M Cremers, James R Lupski, Yoshiko Murakami and Bert B A de Vries

   Eur J Hum Genet, 23 (12), 1689-1693, 2015.
4. Mutations in PIGL in a patient with Mabry syndrome.

   Ikuma Fujiwara, Yoshiko Murakami, Tetsuya Niihori, Junko Kanno, Akiko Hakoda, Osamu Sakamoto, Nobuhiko Okamoto, Ryo Funayama, Takeshi Nagashima, Keiko Nakayama, Taroh Kinoshita, Shigeo Kure, Yoichi Matsubara and Yoko Aoki

   Am J Med Genet A, 167A (4), 777-785, 2015.

Link

Research Promotion Group

Research Institute for Microbial Diseases, Osaka University