Rchr
J-GLOBAL ID：200901011838632580
Update date: Sep. 26, 2024
Murakami Yoshiko
ムラカミ ヨシコ | Murakami Yoshiko
Affiliation and department：
Job title：
Others(describe your title)
Research field (6)：
Hematology and oncology
, Pathobiochemistry
, Functional biochemistry
, Structural biochemistry
, Fetal medicine/Pediatrics
, Cell biology
Research keywords (31)：
包括脳ネットワーク
, GPIアンカー
, 遺伝子
, 糖鎖
, 先天性GPI欠損症
, 高アルカリフォスファターゼ血症
, 細胞・組織
, てんかん
, 精神運動発達障害
, 溶血性貧血
, 発現制御
, 発作性夜間ヘモグロビン尿症
, Eri1
, 高アルカリホスファターゼ血症
, ビタミンB6
, 乳児早期てんかん性脳症
, 深部静脈血栓症
, Ras
, 精神発達遅滞
, PNH
, RhoA
, Erilp
, PIG-Y
, GPIアンカー型蛋白質
, HMGA2
, GPI
, 補体制御因子
, シグナル伝達
, 小胞体
, 翻訳後修飾
, 生合成
Research theme for competitive and other funds (2)：
- 発作性夜間血色素尿症の発症機序に関する研究
- Study on pathogenesis of paroxysmal nocturnal hemoglobinuria
Papers (113)：
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Jai Sidpra, Sniya Sudhakar, Asthik Biswas, Flavia Massey, Valentina Turchetti, Tracy Lau, Edward Cook, Javeria Raza Alvi, Hasnaa M Elbendary, Jerry L Jewell, et al. The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders. Brain : a journal of neurology. 2024. 147. 8. 2775-2790
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Kenichiro Sadamitsu, Kumiko Yanagi, Yuiko Hasegawa, Yoshiko Murakami, Sean E Low, Daikun Ooshima, Yoichi Matsubara, Nobuhiko Okamoto, Tadashi Kaname, Hiromi Hirata. A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures. Journal of human genetics. 2024
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Yoshiko Murakami, Saori Umeshita, Kae Imanishi, Yoshichika Yoshioka, Akinori Ninomiya, Takehiko Sunabori, Shibi Likhite, Masato Koike, Kathrin C Meyer, Taroh Kinoshita. AAV-based gene therapy ameliorated CNS-specific GPI defect in mouse models. Molecular therapy. Methods & clinical development. 2024. 32. 1. 101176-101176
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Yuri Sonoda, Atsushi Fujita, Michiko Torio, Takahiko Mukaino, Ayumi Sakata, Masaru Matsukura, Kousuke Yonemoto, Ken Hatae, Yuko Ichimiya, Pin Fee Chong, et al. Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature. European journal of medical genetics. 2024. 67. 104895-104895
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Alistair T Pagnamenta, Carme Camps, Edoardo Giacopuzzi, John M Taylor, Mona Hashim, Eduardo Calpena, Pamela J Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, et al. Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases. Genome medicine. 2023. 15. 1. 94-94
ｍore...
MISC (10)：
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Yoshiko Murakami, Taroh Kinoshita. GPI Anchor and Its Deficiency. Trends in Glycoscience and Glycotechnology. 2024. 36. 209. E1-E5
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Taroh Kinoshita, Ryoko Murakami, Tokumitsu Inoue. Paroxysmal nocturnal hemoglobinuria: mechanism of clonal expansion. [Rinshō ketsueki] The Japanese journal of clinical hematology. 2005. 46. 5. 317-323
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Wouter L.W. Hazenbos, Yoshiko Murakami, Jun Ichi Nishimura, Junji Takeda, Taroh Kinoshita. Enhanced responses of glycosylphosphatidylinositol anchor-deficient T lymphocytes. Journal of Immunology. 2004. 173. 6. 3810-3815
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Yoshiko Murakami, Uamporn Siripanyapinyo, Yeongjin Hong, Ji Young Kang, Sonoko Ishihara, Hideki Nakakuma, Yusuke Maeda, Taroh Kinoshita. PIG-W is critical for inositol acylation but not for flipping of glycosylphosphatidylinositol-anchor. Molecular Biology of the Cell. 2003. 14. 10. 4285-4295
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Y Murakami, H Kosaka, Y Maeda, J Nishimura, N Inoue, K Ohishi, M Okabe, J Takeda, T Kinoshita. Inefficient response of T lymphocytes to glycosylphosphatidylinositol anchor-negative cells: implications for paroxysmal nocturnal hemoglobinuria. BLOOD. 2002. 100. 12. 4116-4122
ｍore...
Education (2)：
- - 1984 Osaka University Faculty of Medicine
- - 1984 Osaka University Faculty of Medicine
Professional career (1)：
- Doctor (Osaka University)
Work history (2)：
- 2009 - 2015 Osaka University Research Institute for Microbial Diseases
- 2005/06 - 2008/12 Osaka University Research Institute for Microbial Diseases
Association Membership(s) (3)：
日本生化学会
, 日本免疫学会
, 日本小児科学会
