ETFDH基因c.770A>G基因敲入脂质沉积性肌病小鼠模型的建立及其致病机制的研究

81171182
2011
H0911.神经-肌肉接头和肌肉疾病、自主神经疾病
焉传祝
面上项目
教授
山东大学
78万元
脂质沉积性肌病(LSM);多种酰基辅酶A脱氢酶缺陷（MADD）;基因敲入;核黄素;ETFDH基因
2012-01-01到2015-12-31
  • 中英文摘要
  • 结题摘要
  • 结题报告
  • 项目成果
  • 项目参与人
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序号 标题 类型 作者
1 Skeletal muscle increases FGF21 expression in mitochondrial disorders to compensate for energy metabolic insufficiency by activating the mTOR-YY1-PGC1 alpha pathway 期刊论文 Luo, Yue-Bei|Li, Wei|Zhao, Yuying|Yan, Chuanzhu|
2 Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration 期刊论文 Zhu J.|Lin P.|Zheng J.|Yan C.|
3 Unfolded protein response and activated degradative pathways regulation in GNE myopathy. 期刊论文 Liu, Shuping|Zhao, Yuying|Gong, Yaoqin|Yan, Chuanzhu|
4 Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy 期刊论文 Fenster, Danielle S.|Wang, Yongxiang|Gong, Yaoqin|Yan, Chuanzhu|
5 Multiple acyl-CoA dehydrogenation deficiency as decreased acyl-carnitine profile in serum 期刊论文 Li, Duoling|Li, Wei|Zhao, Yuying|Yan, Chuanzhu|
6 Novel Mitochondrial C15620A Variant may Modulate the Phenotype of Mitochondrial G11778A Mutation in a Chinese Family with Leigh Syndrome. 期刊论文 Li, Duoling|Luo, Yue-Bei|Zhao, Yuying|Yan, Chuanzhu|
7 Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency. 期刊论文 Li, Duoling|Lin, Pengfei|Lu, Jiahong|Yan, Chuanzhu|
8 Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation. 期刊论文 Zheng, Jinfan|Li, Danian|Gong, Yaoqin|Yan, Chuanzhu|
9 Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia. 期刊论文 Wen, Bing|Luo, Yue-Bei|Zhao, Yuying|Yan, Chuanzhu|
10 MERRF/MELAS overlap syndrome due to the m.3291T > C mutation 期刊论文 Liu, Kaiming|Zhao, Hui|Ji, Kunqian|Yan, Chuanzhu|
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