期刊
HUMAN MOLECULAR GENETICS
卷 27, 期 17, 页码 3002-3011出版社
OXFORD UNIV PRESS
DOI: 10.1093/hmg/ddy203
关键词
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资金
- Fondazione Pisa
- Otago Medical Research Foundation
- Maurice Wilkins Centre for Molecular Biodiscovery
- HRC [15/623]
Cornelia de Lange syndrome (CdLS) is a rare disease characterized by cognitive impairment, multisystemic alterations and premature aging. Furthermore, CdLS cells display gene expression dysregulation and genomic instability. Here, we demonstrated that treatment with antioxidant drugs, such as ascorbic acid and riboceine, reduced the level of genomic instability and extended the in vitro lifespan of CdLS cell lines. We also found that antioxidant treatment partially rescued the phenotype of a zebrafish model of CdLS. Gene expression profiling showed that antioxidant drugs caused dysregulation of gene transcription; notably, a number of genes coding for the zinc finger (ZNF)-containing Krueppel-associated box (KRAB) protein domain (KRAB-ZNF) were found to be downregulated. Taken together, these data suggest that antioxidant drugs have the potential to ameliorate the developmental phenotype of CdLS.
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