Nucleotide excision repair: from molecular mechanisms to patient phenotypes

Apelt, K. (2022)

Doctoral Thesis

This thesis aims to gain a better understanding of NER, to elucidate new molecular mechanisms and proteins that orchestrate how DNA repair is carried out on genomic DNA that is tightly packed in chromatin inside the living cell. It is important to obtain a better clinical picture of how inherited defects in DNA repair genes shapes phenotypes in patients with DNA repair-deficiency disorders.

• DNA repair
• Cancer
• UV lesions
• DNA damage
• Global genome repair
• Transcription-coupled repair

• All authors: Apelt, K.
• Supervisor: Maarel, S.M. van der
• Co-supervisor: Luijsterburg, M.S.
• Committee: Vertegaal, A.C.O.; Attikum, H. van; Peters, D.J.M.; Vermeulen, W.; Ladurner, A.; Lans, H.
• Qualification: Doctor (dr.)
• Awarding Institution: Faculty of Medicine, Leiden University Medical Center (LUMC), Leiden University
• Date: 2022-04-13