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 2014

1. New insights into the functions of PIGF, a protein involved in the ethanolamine phosphate transfer steps of glycosylphosphatidylinositol biosynthesis.

   Matthew J Stokes, Yoshiko Murakami, Yusuke Maeda, Taroh Kinoshita and Yasu S Morita

   Biochem J, 463 (2), 249-256, 2014.
2. Simulation and estimation of gene number in a biological pathway using almost complete saturation mutagenesis screening of haploid mouse cells.

   Masahiro Tokunaga, Chikara Kokubu, Yusuke Maeda, Jun Sese, Kyoji Horie, Nakaba Sugimoto, Taroh Kinoshita, Kosuke Yusa and Junji Takeda

   BMC Genomics, 15, 1016, 2014.
3. Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3.

   Mitsuko Nakashima, Hirofumi Kashii, Yoshiko Murakami, Mitsuhiro Kato, Yoshinori Tsurusaki, Noriko Miyake, Masaya Kubota, Taroh Kinoshita, Hirotomo Saitsu and Naomichi Matsumoto

   Neurogenetics, 15 (3), 193-200, 2014.
4. PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.

   Chihiro Ohba, Nobuhiko Okamoto, Yoshiko Murakami, Yasuhiro Suzuki, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Fumiaki Tanaka, Taroh Kinoshita, Naomichi Matsumoto and Hirotomo Saitsu

   Neurogenetics, 15 (2), 85-92, 2014.
5. Paroxysmal nocturnal hemoglobinuria with copy number-neutral 6pLOH in GPI (+) but not in GPI (-) granulocytes.

   Yasutaka Ueda, Jun-Ichi Nishimura, Yoshiko Murakami, Sachiko Kajigaya, Taroh Kinoshita, Yuzuru Kanakura and Neal S Young

   Eur J Haematol, 92 (5), 450-453, 2014.
6. Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

   Hilary C Martin, Grace E Kim, Alistair T Pagnamenta, Yoshiko Murakami, Gemma L Carvill, Esther Meyer, Richard R Copley, Andrew Rimmer, Giulia Barcia, Matthew R Fleming, Jack Kronengold, Maile R Brown, Karl A Hudspith, John Broxholme, Alexander Kanapin, Jean-Baptiste Cazier, Taroh Kinoshita, Rima Nabbout, David Bentley, Gil McVean, Sinéad Heavin, Zenobia Zaiwalla, Tony McShane, Heather C Mefford, Deborah Shears, Helen Stewart, Manju A Kurian, Ingrid E Scheffer, Edward Blair, Peter Donnelly, Leonard K Kaczmarek and Jenny C Taylor et al.

   Hum Mol Genet, 23 (12), 3200-3211, 2014.
7. PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.

   Mitsuhiro Kato, Hirotomo Saitsu, Yoshiko Murakami, Kenjiro Kikuchi, Shuei Watanabe, Mizue Iai, Kazushi Miya, Ryuki Matsuura, Rumiko Takayama, Chihiro Ohba, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Shin-Ichiro Hamano, Hitoshi Osaka, Kiyoshi Hayasaka, Taroh Kinoshita and Naomichi Matsumoto

   Neurology, 82 (18), 1587-1596, 2014.
8. Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.

   Yoshiko Murakami, Hasan Tawamie, Yusuke Maeda, Christian Büttner, Rebecca Buchert, Farah Radwan, Stefanie Schaffer, Heinrich Sticht, Michael Aigner, André Reis, Taroh Kinoshita and Rami Abou Jamra

   PLoS Genet, 10 (5), e1004320, 2014.
9. PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.

   Kazuyuki Nakamura, Hitoshi Osaka, Yoshiko Murakami, Rie Anzai, Kiyomi Nishiyama, Hirofumi Kodera, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Taroh Kinoshita, Naomichi Matsumoto and Hirotomo Saitsu

   Epilepsia, 55 (2), e13-17, 2014.
10. Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.

    Malcolm F Howard, Yoshiko Murakami, Alistair T Pagnamenta, Cornelia Daumer-Haas, Björn Fischer, Jochen Hecht, David A Keays, Samantha J L Knight, Uwe Kölsch, Ulrike Krüger, Steffen Leiz, Yusuke Maeda, Daphne Mitchell, Stefan Mundlos, John A Phillips, Peter N Robinson, Usha Kini, Jenny C Taylor, Denise Horn, Taroh Kinoshita and Peter M Krawitz

    Am J Hum Genet, 94 (2), 278-287, 2014.
11. Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome.

    Tomohiro Chiyonobu, Norimitsu Inoue, Masafumi Morimoto, Taroh Kinoshita and Yoshiko Murakami

    J Med Genet, 51 (3), 203-207, 2014.

Link

Research Promotion Group

Research Institute for Microbial Diseases, Osaka University