Functional Analysis of iPSC-derived Myocytes from a Patient with Carnitine Palmitoyltransferase II Deficiency

肉毒碱棕榈酰转移酶 II 缺乏症患者 iPSC 来源的肌细胞的功能分析

• 批准号: 23791200
• 负责人: YASUNO Tetsuhiko
• 金额: $ 2.66万
• 依托单位: Fukuoka University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Young Scientists (B)
• 财政年份: 2011
• 资助国家: 日本
• 起止时间: 2011 至 2012
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-23791200/
• 关键词: CPTII欠損症; iPS細胞; 先天代謝異常症; 横紋筋融解症; ベザフィブラート

We induced differentiation of CPT II-deficient hiPSCs into mature myocytes in a highly efficient and reproducible manner and recapitulated some aspects of the disease phenotypes of CPT II deficiency in the myocyte disease models. This approach addresses the challenges of modeling the abnormality of FAO in CPT II deficiency using iPSC technology and has the potential to revolutionize translational research in this field.

我们以高效和可重复性的方式将CPT II缺陷的HiPSCs诱导分化为成熟的心肌细胞，并概述了CPT II缺陷在心肌细胞疾病模型中的疾病表型的某些方面。这一方法解决了利用IPSC技术模拟粮农组织CPT II缺乏症异常的挑战，并有可能彻底改变这一领域的翻译研究。

项目成果

Functional analysis of iPSC-derived myocytes from a patient with carnitine palmitoyltransferase II deficiency

• DOI: 10.1016/j.bbrc.2014.04.084
• 发表时间: 2014-05-30
• 期刊: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
• 影响因子: 3.1
• 作者: Yasuno, Tetsuhiko;Osafune, Kenji;Kaneoka, Hidetoshi
• 通讯作者: Kaneoka, Hidetoshi

Monitoring and robust induction of nephrogenic intermediate mesoderm from human pluripotent stem cells.

• DOI: 10.1038/ncomms2378
• 发表时间: 2013
• 期刊: Nature communications
• 影响因子: 16.6

患者由来iPS細胞から病的筋細胞への分化誘導

诱导患者来源的 iPS 细胞分化为病理性肌肉细胞

• 发表时间: 2014
• 作者: Shin-Ichi Mae;Akemi Shono;Fumihiko Shiota;Tetsuhiko Yasuno;Masatoshi Kajiwara;Nanaka Gotoda-Nishimura;Sayaka Arai;Aiko Sato-Otubo;Taro Toyoda;Kazutoshi Takahashi;Naoki Nakayama;Chad A. Cowan;Takashi Aoi;Seishi Ogawa;Andrew P. McMahon;Shinya;安野哲彦
• 通讯作者: 安野哲彦