Barbara van Loon
Background and activities
Research group: "Aberrant DNA bases and chromatin integrity"
Numerous lethal and mutagenic DNA lesions are formed upon exposure to endogenous and exogenous damaging agents. The estimated steady-state level of endogenous DNA damage in mammalian cells is high, about 20’000 lesions per cell per day. Aberrant DNA bases represent significant portion of endogenous DNA damage. To maintain the integrity of genetic information organized within chromatin, cells need to efficiently repair the DNA. Accumulation of aberrant DNA bases has been tightly associated with aging, cancer development, as well as the onset of different neurological diseases. Aim of our research is to determine how presence of aberrant DNA bases influences essential cellular processes, like transcription and gene expression, as well as to identify different factors that ensure efficient repair. By using multidisciplinary approaches (including biochemistry, cell biology, genomics, proteomics, 3D culturing, imaging, CRISPR libraries, and computational biology) we focus on identification of pathomechanisms that lead to development of human diseases, in particular neurodevelopmental disorders and cancer, and which could potentially serve as basis for evolution of novel therapies.
- Merdane E. Aksu (https://www.ntnu.no/ansatte/merdane.e.aksu)
- Kayla M. Grooms (https://www.ntnu.edu/employees/kaylag)
- Kristin Rian (https://www.ntnu.no/ansatte/kristin.rian)
- Maria Eikenes Skorpen
Outstanding Academic Fellow
- MOL3100 - Introduction to Molecular Medicine with Project
- MOL3000 - Introduction to Molecular Medicine
Scientific, academic and artistic work
Displaying a selection of activities. See all publications in the database
- (2021) Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilities. Cell Reports Medicine. vol. 2 (4).
- (2021) Loss of Mediator complex subunit 13 (MED13) promotes resistance to alkylation through cyclin D1 upregulation. Nucleic Acids Research (NAR). vol. 49 (3).
- (2019) Alkyladenine DNA glycosylase associates with transcription elongation to coordinate DNA repair with gene expression. Nature Communications. vol. 10 (1).
- (2018) Negative effects of oxidative stress in bovine spermatozoa on in vitro development and DNA integrity of embryos. Reproduction, Fertility and Development. vol. 30 (10).
- (2018) Characterization of FGD5 expression in primary breast cancers and lymph node metastases. Journal of Histochemistry and Cytochemistry.
- (2017) Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability. Scientific Reports. vol. 7:15050.
- (2017) Genomic and functional integrity of the hematopoietic system requires tolerance of oxidative DNA lesions. Blood. vol. 130 (13).
- (2017) Ribonucleotide incorporation by human DNA polymerase η impacts translesion synthesis and RNase H2 activity. Nucleic Acids Research (NAR).
- (2017) HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. European Journal of Human Genetics. vol. 26.
- (2017) Living on the edge: DNA polymerase lambda between genome stability and mutagenesis. Chemical Research in Toxicology. vol. 30 (11).