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 2017

1. Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.

   Alistair T Pagnamenta, Yoshiko Murakami, John M Taylor, Consuelo Anzilotti, Malcolm F Howard, Venessa Miller, Diana S Johnson, Shereen Tadros, Sahar Mansour, I Karen Temple, Rachel Firth, Elisabeth Rosser, Rachel E Harrison, Bronwen Kerr, Niko Popitsch, Taroh Kinoshita, Jenny C Taylor and Usha Kini et al.

   Eur J Hum Genet, 25 (6), 669-679, 2017.
2. Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.

   Devon L Johnstone, Thi-Tuyet-Mai Nguyen, Yoshiko Murakami, Kristin D Kernohan, Martine Tétreault, Claire Goldsmith, Asif Doja, Justin D Wagner, Lijia Huang, Taila Hartley, Anik St-Denis, Françoise le Deist, Jacek Majewski, Dennis E Bulman, Taroh Kinoshita, David A Dyment, Kym M Boycott and Philippe M Campeau et al.

   Hum Mol Genet, 26 (9), 1706-1715, 2017.
3. Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability.

   Simon Edvardson, Yoshiko Murakami, Thi Tuyet Mai Nguyen, Maher Shahrour, Anik St-Denis, Avraham Shaag, Nadira Damseh, Françoise Le Deist, Yenan Bryceson, Bassam Abu-Libdeh, Philippe M Campeau, Taroh Kinoshita and Orly Elpeleg

   J Med Genet, 54 (3), 196-201, 2017.
4. A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia.

   Ana L Kolicheski, Gary S Johnson, Tendai Mhlanga-Mutangadura, Jeremy F Taylor, Robert D Schnabel, Taroh Kinoshita, Yoshiko Murakami and Dennis P O'Brien

   Neurogenetics, 18 (1), 39-47, 2017.
5. PIGN prevents protein aggregation in the endoplasmic reticulum independently of its function in the GPI synthesis.

   Shinji Ihara, Sohei Nakayama, Yoshiko Murakami, Emiko Suzuki, Masayo Asakawa, Taroh Kinoshita and Hitoshi Sawa

   J Cell Sci, 130 (3), 602-613, 2017.

Link

Research Institute for Microbial Diseases, Osaka University