Mashima Ryuichi

Affiliation and department：

Research field (1)： Pathobiochemistry

Research theme for competitive and other funds (9)：

2022 - 2025 病態モデルマウスを利用したムコ多糖症発症メカニズムの解明と治療法の開発
2019 - 2022 Development of clinical assay for LSDs using LC-MS/MS
2016 - 2019 Development of screening and diagnostic assay for mucopolysaccharidosis type II
2011 - 2016 Dysfunction of planar cell polarity signaling and its relationship with ciliopathies and cancer invasion and metastasis
2011 - 2013 The role of Dok adaptors in pulmonary disorders

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Papers (51)：

Narutoshi Yamazaki, Mari Ohira, Shuji Takada, Akira Ohtake, Masafumi Onodera, Mahito Nakanishi, Torayuki Okuyama, Ryuichi Mashima. Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II. Molecular genetics and metabolism reports. 2023. 37. 101021-101021
Ryuichi Mashima, Shuji Takada, Yoshitaka Miyamoto. RNA-Based Therapeutic Technology. International Journal of Molecular Sciences. 2023
Ryuichi Mashima, Mari Ohira, Torayuki Okuyama, Masafumi Onodera, Shuji Takada. A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation. Scientific reports. 2023. 13. 1. 7865-7865
Ryuichi Mashima, Shuji Takada. Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study. International journal of molecular sciences. 2022. 23. 24
Mari Ohira, Marianne Barr, Torayuki Okuyama, Ryuichi Mashima. LC-MS/MS-based enzyme assay for lysosomal acid lipase using dried blood spots. Molecular genetics and metabolism reports. 2022. 33. 100913-100913

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MISC (64)：

真嶋隆一, 奥山虎之. 【mRNAワクチンやゲノム編集で注目が集まる遺伝子治療】遺伝子治療技術を用いた疾患治療先天代謝異常症ライソゾーム病. 医学のあゆみ. 2023. 285. 5. 398-401
真嶋隆一. 質量分析法が貢献するライソゾーム病のバイオマーカー分析. JSBMS Letters. 2023. 48. 1. 4-10
真嶋隆一, 大平麻里, バー・マリアン, 奥山虎之, ハミルトン・ジョン. ライソゾーム酸性リパーゼの酵素活性測定法の検討. 日本先天代謝異常学会雑誌. 2022. 38. 198-198
真嶋隆一, 大平麻里, Barr Marianne, 奥山虎之, Hamilton John. 乾燥濾紙血を使用したライソゾーム酸性リパーゼ酵素活性測定法の検討. 日本マス・スクリーニング学会誌. 2022. 32. 2. 220-220
真嶋隆一, 大平麻里, 菊池亜美花, 奥山虎之, 小野寺雅史, 水田志織, 吉田尚美, 中西真人. ステルス型ベクターによるイズロン酸-2-スルファターゼの発現(Examination of Therapeutic Iduronate-2-sulfatase Enzyme with a Novel Single-Stranded RNA Vector). JSBMS Letters. 2022. 47. Suppl. 64-64

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