Yabumoto Department of Intractable Disease Research

Staff:

Endowed Chair Professor

Taroh Kinoshita, Ph.D.

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

Guest Professor

Norimitsu Inoue, M.D., Ph.D.

Morihisa Fujita, Ph.D.

Guest Associate Professor

Takashi Akazawa, Ph.D.

Visiting Academic Staff

Shogo Murata, M.D., Ph.D.

Specially Appointed Researcher

Gun Hee Lee, Ph.D.

Graduate Student

Yicheng Wang

Research Student

Keiko Kinoshita

Subjects:

1. Molecular pathogenesis of a GPI-anchor deficiencies, paroxysmal nocturnal hemoglobinuria and inherited GPI deficiency.
2. Biochemistry and molecular biology of biosynthesis pathway of GPI-anchored proteins.

Papers published in 2017

1. Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.

   Thi Tuyet Mai Nguyen, Yoshiko Murakami, Eamonn Sheridan, Sophie Ehresmann, Justine Rousseau, Anik St-Denis, Guoliang Chai, Norbert F Ajeawung, Laura Fairbrother, Tyler Reimschisel, Alexandra Bateman, Elizabeth Berry-Kravis, Fan Xia, Jessica Tardif, David A Parry, Clare V Logan, Christine Diggle, Christopher P Bennett, Louise Hattingh, Jill A Rosenfeld, Michael Scott Perry, Michael J Parker, Françoise Le Deist, Maha S Zaki, Erika Ignatius, Pirjo Isohanni, Tuula Lönnqvist, Christopher J Carroll, Colin A Johnson, Joseph G Gleeson, Taroh Kinoshita and Philippe M Campeau

   Am J Hum Genet, 101 (5), 856-865, 2017.
2. N-Glycan-dependent protein folding and endoplasmic reticulum retention regulate GPI-anchor processing.

   Yi-Shi Liu, Xin-Yu Guo, Tetsuya Hirata, Yao Rong, Daisuke Motooka, Toshihiko Kitajima, Yoshiko Murakami, Xiao-Dong Gao, Shota Nakamura, Taroh Kinoshita and Morihisa Fujita

   J Cell Biol, 217 (2), 585-599, 2017.
3. Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations.

   Kosuke Kohashi, Akihiko Ishiyama, Shota Yuasa, Tomomi Tanaka, Kazushi Miya, Yuichi Adachi, Noriko Sato, Hirotomo Saitsu, Chihiro Ohba, Naomichi Matsumoto, Yoshiko Murakami, Taroh Kinoshita, Kenji Sugai and Masayuki Sasaki

   Brain Dev, 40 (1), 53-57, 2017.
4. Genome-Wide Screening Uncovers the Significance of N-Sulfation of Heparan Sulfate as a Host Cell Factor for Chikungunya Virus Infection.

   Atsushi Tanaka, Uranan Tumkosit, Shota Nakamura, Daisuke Motooka, Natsuko Kishishita, Thongkoon Priengprom, Areerat Sa-Ngasang, Taroh Kinoshita, Naokazu Takeda and Yusuke Maeda

   J Virol, 91 (13), e00432- 17, 2017.
5. Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.

   Junpei Tanigawa, Haruka Mimatsu, Seiji Mizuno, Nobuhiko Okamoto, Daisuke Fukushi, Koji Tominaga, Hiroyuki Kidokoro, Yukako Muramatsu, Eriko Nishi, Shota Nakamura, Daisuke Motooka, Noriko Nomura, Kiyoshi Hayasaka, Tetsuya Niihori, Yoko Aoki, Shin Nabatame, Masahiro Hayakawa, Jun Natsume, Keiichi Ozono, Taroh Kinoshita, Nobuaki Wakamatsu and Yoshiko Murakami

   Hum Mutat, 38 (7), 805-815, 2017.

Link

Yabumoto Department of Intractable Disease Research

Research Institute for Microbial Diseases, Osaka University