Osaka University · Research Institute for Microbial Diseases · 特任教授

Research keywordsCell・Gene・Genetics・Mutation・biology・ビタミンB6・包括脳ネットワーク・小胞体

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• Preferential use of alkyl-acyl phosphatidylinositol for GPI biosynthesis and diagnostic potential of lipidomics for inherited GPI deficiencies.2026 · The Journal of biological chemistry Vol. 302 No. 3 p. 111256-111256 2026年3月 研究論文（学術雑誌）
• Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report.2026 · American journal of medical genetics. Part A Vol. 200 No. 1 p. 171-177 2026年1月 研究論文（学術雑誌）
• Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM.2026 · Annals of clinical and translational neurology 2026年3月4日 研究論文（学術雑誌）
• ARV1 is a component of the enzyme initiating glycosylphosphatidylinositol biosynthesis2025 · Journal of Biological Chemistry Vol. 301 No. 6 p. 110236-110236 2025年6月 研究論文（学術雑誌）

• 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
• GPI生合成と脂質合成に関わるARV1の機能の解明

• Official profile