Identification and analysis of the promoter region of the human DHCR24 gene: involvement of DNA methylation and histone acetylation

@article{Drzewiska2010IdentificationAA,
  title={Identification and analysis of the promoter region of the human DHCR24 gene: involvement of DNA methylation and histone acetylation},
  author={Joanna Drzewińska and Aurelia Walczak-Drzewiecka and Marcin Ratajewski},
  journal={Molecular Biology Reports},
  year={2010},
  volume={38},
  pages={1091-1101}
}
Mutations in the DHCR24 gene, which encodes the cholesterol biosynthesis enzyme 3ß-hydroxysterol-∆24 reductase, result in an autosomal recessive disease called desmosterolosis. Further, reduced expression of DHCR24 is found in the temporal cortex of Alzheimer’s disease patients. This suggests that variability in the regulatory regions of DHCR24 may contribute to the development of this neurodegenerative disease. In this work, we functionally characterised the proximal fragment of the human… CONTINUE READING
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