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Chromatin modifiers in DNA repair and human disease
DNA damage response (DDR), to repair DNA damage and maintain genome integrity. This
response is driven and regulated by posttranslational protein modifications and chromatin
remodeling events. Mutations or aberrant expression of chromatin modifying proteins not
only impacts on the DDR, but also causes human diseases with severe clinical phenotypes,
illustrating the importance of these proteins for genome stability maintenance and human
health. Largely unclear is, however, which and how chromatin modifying enzymes control
the complex DDR pathways and in this manner prevent the onset of disease. To this end,
we employed cross-disciplinary approaches that combined cell biological, biochemical and
microscopic methods to identify histone modifying enzymes, chromatin remodelers as well
as other DDR proteins and elucidate their...Show more Upon the induction of DNA damage, cells initiate a protective response, referred to as the
DNA damage response (DDR), to repair DNA damage and maintain genome integrity. This
response is driven and regulated by posttranslational protein modifications and chromatin
remodeling events. Mutations or aberrant expression of chromatin modifying proteins not
only impacts on the DDR, but also causes human diseases with severe clinical phenotypes,
illustrating the importance of these proteins for genome stability maintenance and human
health. Largely unclear is, however, which and how chromatin modifying enzymes control
the complex DDR pathways and in this manner prevent the onset of disease. To this end,
we employed cross-disciplinary approaches that combined cell biological, biochemical and
microscopic methods to identify histone modifying enzymes, chromatin remodelers as well
as other DDR proteins and elucidate their mechanistic role in the response to DNA doublestrand
breaks (DSBs) and disease prevention.Show less
- All authors
- Helfricht, A.
- Supervisor
- Maarel, S.M. van der
- Co-supervisor
- Attikum, H. van; Vertegaal, A.C.O.
- Committee
- Tijsterman, M.; Kanaar, R.; Burg, M. v.d.
- Qualification
- Doctor (dr.)
- Awarding Institution
- Faculty of Medicine, Leiden University Medical Center (LUMC) , Leiden University
- Date
- 2016-11-01
- ISBN (print)
- 9789461827197