Glycine-alanine dipeptide repeat protein contributes to toxicity in a zebrafish model of C9orf72 associated neurodegeneration
作者: Yu OhkiAndrea Wenninger-WeinzierlAlexander HruschaKazuhide AsakawaKoichi KawakamiChristian HaassDieter EdbauerBettina Schmid
作者单位: 1German Center for Neurodegenerative Diseases (DZNE)
2Ludwig-Maximilians University Munich
3National Institute of Genetics
4Munich Cluster for Systems Neurology (SyNergy)
刊名: Molecular Neurodegeneration, 2017, Vol.12 (1)
来源数据库: Springer Journal
DOI: 10.1186/s13024-016-0146-8
关键词: ZebrafishC9orf72Poly-GA toxicity
英文摘要: The most frequent genetic cause of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) is the expansion of a GGGGCC hexanucleotide repeat in a non-coding region of the chromosome 9 open reading frame 72 ( C9orf72) locus. The pathological hallmarks observed in C9orf72 repeat expansion carriers are the formation of RNA foci and deposition of dipeptide repeat (DPR) proteins derived from repeat associated non-ATG (RAN) translation. Currently, it is unclear whether formation of RNA foci, DPR translation products, or partial loss of C9orf72 predominantly drive neurotoxicity in vivo. By using a transgenic approach in zebrafish we address if the most frequently found DPR in human ALS/FTLD brain, the poly-Gly-Ala (poly-GA) protein, is toxic in vivo.
原始语种摘要: The most frequent genetic cause of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) is the expansion of a GGGGCC hexanucleotide repeat in a non-coding region of the chromosome 9 open reading frame 72 ( C9orf72) locus. The pathological hallmarks observed in C9orf72 repeat expansion carriers are the formation of RNA foci and deposition of dipeptide repeat (DPR) proteins derived from repeat associated non-ATG (RAN) translation. Currently, it is unclear whether formation of RNA foci, DPR translation products, or partial loss of C9orf72 predominantly drive neurotoxicity in vivo. By using a transgenic approach in zebrafish we address if the most frequently found DPR in human ALS/FTLD brain, the poly-Gly-Ala (poly-GA) protein, is toxic in vivo.
全文获取路径: Springer  (合作)
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来源刊物:
影响因子:4.007 (2012)

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关键词翻译
关键词翻译
  • repeat 中继
  • alanine 丙氨酸
  • protein 蛋白质
  • toxicity 毒性
  • formation 建造
  • observed 观察到的
  • dipeptide 二肽
  • associated 相关的
  • genetic 遗传的
  • region 地域