Quantitative analysis of cryptic splicing associated with TDP-43 depletion
作者: Jack HumphreyWarren EmmettPietro FrattaAdrian M. IsaacsVincent Plagnol
作者单位: 1University College London Genetics Institute
2UCL Institute of Neurology
3The Francis Crick Institute
刊名: BMC Medical Genomics, 2017, Vol.10 (1)
来源数据库: Springer Journal
DOI: 10.1186/s12920-017-0274-1
关键词: RNA-seqCryptic exonsSplicingTDP-43
英文摘要: Reliable exon recognition is key to the splicing of pre-mRNAs into mature mRNAs. TDP-43 is an RNA-binding protein whose nuclear loss and cytoplasmic aggregation are a hallmark pathology in amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD). TDP-43 depletion causes the aberrant inclusion of cryptic exons into a range of transcripts, but their extent, relevance to disease pathogenesis and whether they are caused by other RNA-binding proteins implicated in ALS/FTD are unknown.
原始语种摘要: Reliable exon recognition is key to the splicing of pre-mRNAs into mature mRNAs. TDP-43 is an RNA-binding protein whose nuclear loss and cytoplasmic aggregation are a hallmark pathology in amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD). TDP-43 depletion causes the aberrant inclusion of cryptic exons into a range of transcripts, but their extent, relevance to disease pathogenesis and whether they are caused by other RNA-binding proteins implicated in ALS/FTD are unknown.
全文获取路径: Springer  (合作)
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来源刊物:
影响因子:3.466 (2012)

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关键词翻译
关键词翻译
  • splicing 接合
  • TDP Touch Down Point
  • depletion 矿量递减
  • associated 相关的
  • RNA ROYAL NEPAL AIRLINES CORP.
  • protein 蛋白质
  • ALS Accumulator Left Shift
  • dementia 痴呆
  • amyotrophic 肌肉萎缩的
  • hallmark 检验印记