Osaka Hitoshi

オサカヒトシ | Osaka Hitoshi

Affiliation and department：
Homepage URL (1)： https://research-er.jp/researchers/view/139219

Research field (1)： Fetal medicine/Pediatrics

Research keywords (4)： gene therapy , 白質形成不全 , ミトコンドリア病 , 神経変性

Research theme for competitive and other funds (10)：

2024 - 2027 AAVウイルス遺伝子治療による中枢神経単一細胞発現マッピング
2022 - 2025 Development of Mitochondrial Disease Therapy by Mitochondrial DNA Replacement in Haematopoietic Stem Cells
2022 - 2025 Development of Mitochondrial Disease Therapy by Mitochondrial DNA Replacement in Hematopoietic Stem Cells
2020 - 2023 ミトコンドリア病細胞死阻止機構の解明と創薬
2016 - 2019 Impaired ER-Golgi trafficking as a novel cellular pathology for Pelizaeus-Merzbacher disease

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Papers (390)：

Chika Watanabe, Masamitsu Maekawa, Eriko Jimbo, Yoshie Kurokawa, Karin Kojima, Kazuhiro Muramatsu, Keitaro Miyoshi, Chen Wu, Miki Igarashi, Shin-ichi Muramatsu, et al. An Analysis of Biomarkers for the Evaluation of Gene Therapy in Niemann-Pick Disease Type C1 Mice. Human Gene Therapy. 2026
Yukina Hayashi, Kenta Kajiwara, Seiji Mizuno, Nobuhiko Okamoto, Mei Yan Chan, Tomohide Goto, Seiichi Hayakawa, Mitsuhiro Kato, Chong Ae Kim, Dorit Lev, et al. Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders. Journal of human genetics. 2025
Kohei Nagai, Tadahiro Mitani, Yuta Kawahara, Hirofumi Oguma, Akira Gomi, Atsushi Yasumoto, Toshihiro Tajima, Kazuhiro Muramatsu, Hitoshi Osaka. A pediatric case of anti-PF4 antibody-induced cerebral venous sinus thrombosis and thrombocytopenia following adenovirus infection: a literature review. Brain & development. 2025. 47. 6. 104483-104483
Ayumi Matsumoto, Go Kasuya, Suvd Tumurbaatar, Takuya Masuda, Kei Wakabayashi, Masako Kawada, Yasutomi Higashikuni, Kazuhiro Muramatsu, Koichi Nakajo, Hitoshi Osaka, et al. Compound heterozygous variants of CACNA1H change channel properties and contribute to intractable epilepsy with myoclonic-atonic seizures. Journal of Human Genetics. 2025
Shingo Ito, Tatsuki Uemura, Ayaka Miyano, Hiroko Shimbo, Takeshi Masuda, Tomohide Goto, Hitoshi Osaka, Takahito Wada, Sumio Ohtsuki. Effects of SLC6A8 mutation-induced creatine deficiency on cellular function in fibroblasts. Scientific reports. 2025. 15. 1. 26738-26738

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MISC (151)：

小林瑞, 小林瑞, 古田裕子, 深澤友紀, 圓山史, 根本理香, 小倉一輝, 倉根超, 門田行史, 工藤さほ, et al. Questionnaire Survey on the Life and Work of Parents Raising Children with Disabilities and Children with Medical Care. 日本小児科学会雑誌. 2025. 129. 2
渡邉知佳, 渡邉知佳, 宮内彰彦, 神保恵理子, 今澤俊之, 村山圭, 大竹明, 山形崇倫, 小坂仁. 原発性CoenzymeQ₁₀欠乏症の病態におけるフェロトーシスの関与. 日本ミトコンドリア学会年会要旨集. 2024. 23rd
NAGAI Kohei, MITANI Tadahiro, NAKAMURA Hirotaka, KURANE Koyuru, MONDEN Yukifumi, MURAMATSU Kazuhiro, OSAKA Hitoshi, YAGIHASHI Tatsuhiko. A case of 2q31.3q32.3 deletion with intellectual disability and psychosis. 脳と発達. 2024. 56. 2
渡邉知佳, 宮内彰彦, 神保恵理子, 今澤俊之, 村山圭, 大竹明, 山形崇倫, 小坂仁. 原発性CoenzymeQ₁₀欠乏症の病態におけるferroptosisの関与. 日本ミトコンドリア学会年会要旨集. 2023. 21st
伊藤孝司, 村松慎一, 山形崇倫, 酒井規夫, 村松一洋, 渡邊美有紀, 小坂仁. GM2ガングリオシドーシスに対するin vivo遺伝子治療法開発. 日本先天代謝異常学会雑誌. 2023. 39

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Work history (10)：

Jichi Medical University
Kanagawa Children's Medical Center
科学技術振興事業団さきがけ21研究者(情報と細胞機能)
国立精神神経センター疾病研究所第四部
Univ. of California, San Diego. Dept of Pharmacology. (postdoctral Fellow)

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