Barbara van Loon

About

Research group: "Aberrant DNA bases and chromatin integrity"

Our research

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.

Group members

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)

Master students:

Anine I. Aunan
Vivienne A. Bauer
Lusie Frostvoll Kuraas

Publications

http://www.ncbi.nlm.nih.gov/pubmed/?term=Barbara+van+Loon

Onsager Fellow

https://www.ntnu.edu/research/onsager-fellowship

Outstanding Academic Fellow

https://www.ntnu.edu/outstanding-academic-fellows-programme/2017-2021

Publications

2021

Aprigliano, Rossana; Aksu, Merdane Ezgi; Bradamante, Stefano; Mihaljevic, Boris; Wang, Wei; Rian, Kristin; Montaldo, Nicola Pietro; Grooms, Kayla; Martin, Sarah; Bordin, Diana Lilian; Bosshard, Matthias; Peng, Yunhui; Alexov, Emil; Skinner, Cindy; Liabakk, Nina-Beate; Sullivan, Gareth; Bjørås, Magnar; Schwartz, Charles; van Loon, Barbara. (2021) Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilities. Cell Reports Medicine. volum 2 (4).
Rolinski, Milosz; Montaldo, Nicola Pietro; Aksu, Merdane Ezgi; Martin, Sarah Fordyce; Brambilla, Alessandro; Kunath, Nicolas; Johansen, Jostein; Erlandsen, Sten Even; Liabakk, Nina-Beate; Rian, Kristin; Bjørås, Magnar; Sætrom, Pål; van Loon, Barbara. (2021) Loss of Mediator complex subunit 13 (MED13) promotes resistance to alkylation through cyclin D1 upregulation. Nucleic Acids Research (NAR). volum 49 (3).

2019

Montaldo, Nicola Pietro; Bordin, Diana Lilian; Brambilla, Alessandro; Rösinger, Marcel; Martin, Sarah Fordyce; Bjørås, Karine Øian; Bradamante, Stefano; Aas, Per Arne; Furrer, Antonia; Olsen, Lene Christin; Kunath, Nicolas; Otterlei, Marit; Sætrom, Pål; Bjørås, Magnar; Samson, Leona D.; van Loon, Barbara. (2019) Alkyladenine DNA glycosylase associates with transcription elongation to coordinate DNA repair with gene expression. Nature Communications. volum 10 (1).

2018

Bittner, Lilli; Wyck, Sarah; Herrera, Carolina; Siuda, M; Wrenzycki, Christine; van Loon, Barbara; Bollwein, Heinrich. (2018) Negative effects of oxidative stress in bovine spermatozoa on in vitro development and DNA integrity of embryos. Reproduction, Fertility and Development. volum 30 (10).
Valla, Marit; Mjønes, Patricia; Engstrøm, Monica J; Ytterhus, Borgny; Bordin, Diana Lilian; van Loon, Barbara; Akslen, Lars A.; Vatten, Lars Johan; Opdahl, Signe; Bofin, Anna M.. (2018) Characterization of FGD5 expression in primary breast cancers and lymph node metastases. Journal of Histochemistry and Cytochemistry.

2017

Bosshard, Matthias; Aprigliano, Rossana; Gattiker, Cristina; Palibrk, Vuk; Markkanen, Enni; Backe, Paul Hoff; Pellegrino, Stefania; Raymond, F. Lucy; Froyen, Guy; Altmeyer, Matthias; Bjørås, Magnar; Dianov, Grigory L.; van Loon, Barbara. (2017) Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability. Scientific Reports. volum 7:15050.
Martin-Pardillos, Ana; Tsaalbi-Shtylik, Anastasia; Chen, Si; Lazare, Seka; Van Os, Ronald P; Dethmers-Ausema, Albertina; Fakouri, Nima Borhan; Bosshard, Matthias; Aprigliano, Rossana; van Loon, Barbara; Salvatori, Daniela C F; Hashimoto, Keiji; Van Der Spek, Celia Dingemanse; Moriya, Masaaki; Rasmussen, Lene Juel; De Haan, Gerald; Raaijmakers, Marc H G P; de Wind, Niels. (2017) Genomic and functional integrity of the hematopoietic system requires tolerance of oxidative DNA lesions. Blood. volum 130 (13).
Mentegari, Elisa; Crespan, Emmanuele; Bavagnoli, Laura; Kissova, Miroslava; Bertoletti, Federica; Sabbioneda, Simone; Imhof, Ralph; Sturla, Shana J; Nilforoushan, Arman; Hübscher, Ulrich; van Loon, Barbara; Maga, Giovanni. (2017) Ribonucleotide incorporation by human DNA polymerase η impacts translesion synthesis and RNase H2 activity. Nucleic Acids Research (NAR).
Moortgat, Stéphanie; Berland, Siren; Aukrust, Ingvild; Maystadt, Isabelle; Baker, Laura; Benoit, Valerie; Caro-Llopis, Alfonso; Cooper, Nicola S.; Debray, François-Guillaume; Faivre, Laurence; Gardeitchik, Thatjana; Haukanes, Bjørn Ivar; Houge, Gunnar; Kivuva, Emma; Martinez, Francisco; Mehta, Sarju G.; Nassogne, Marie-Cécile; Powell-Hamilton, Nina; Pfundt, Rolph; Rosello, Monica; Prescott, Trine; Vasudevan, Pradeep; van Loon, Barbara; Verellen-Dumoulin, Christine; Verloes, Alain; von der Lippe, Charlotte; Wakeling, Emma; Wilkie, Andrew O.M.; Wilson, Louise; Yuen, Amy; Low, Karen J.; Newbury-Ecob, Ruth A.. (2017) HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. European Journal of Human Genetics. volum 26.
van Loon, Barbara; Hübscher, Ulrich; Maga, Giovanni. (2017) Living on the edge: DNA polymerase lambda between genome stability and mutagenesis. Chemical Research in Toxicology. volum 30 (11).

2016

Räz, Michael H; Dexter, Hannah R; Millington, Christopher L; van Loon, Barbara; Williams, David M; Sturla, Shana J. (2016) Bypass of Mutagenic O6-Carboxymethylguanine DNA Adducts by Human Y- and B-Family Polymerases. Chemical Research in Toxicology. volum 29 (9).

Journal publications

Aprigliano, Rossana; Aksu, Merdane Ezgi; Bradamante, Stefano; Mihaljevic, Boris; Wang, Wei; Rian, Kristin; Montaldo, Nicola Pietro; Grooms, Kayla; Martin, Sarah; Bordin, Diana Lilian; Bosshard, Matthias; Peng, Yunhui; Alexov, Emil; Skinner, Cindy; Liabakk, Nina-Beate; Sullivan, Gareth; Bjørås, Magnar; Schwartz, Charles; van Loon, Barbara. (2021) Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilities. Cell Reports Medicine. volum 2 (4).
Rolinski, Milosz; Montaldo, Nicola Pietro; Aksu, Merdane Ezgi; Martin, Sarah Fordyce; Brambilla, Alessandro; Kunath, Nicolas; Johansen, Jostein; Erlandsen, Sten Even; Liabakk, Nina-Beate; Rian, Kristin; Bjørås, Magnar; Sætrom, Pål; van Loon, Barbara. (2021) Loss of Mediator complex subunit 13 (MED13) promotes resistance to alkylation through cyclin D1 upregulation. Nucleic Acids Research (NAR). volum 49 (3).
Montaldo, Nicola Pietro; Bordin, Diana Lilian; Brambilla, Alessandro; Rösinger, Marcel; Martin, Sarah Fordyce; Bjørås, Karine Øian; Bradamante, Stefano; Aas, Per Arne; Furrer, Antonia; Olsen, Lene Christin; Kunath, Nicolas; Otterlei, Marit; Sætrom, Pål; Bjørås, Magnar; Samson, Leona D.; van Loon, Barbara. (2019) Alkyladenine DNA glycosylase associates with transcription elongation to coordinate DNA repair with gene expression. Nature Communications. volum 10 (1).
Bittner, Lilli; Wyck, Sarah; Herrera, Carolina; Siuda, M; Wrenzycki, Christine; van Loon, Barbara; Bollwein, Heinrich. (2018) Negative effects of oxidative stress in bovine spermatozoa on in vitro development and DNA integrity of embryos. Reproduction, Fertility and Development. volum 30 (10).
Valla, Marit; Mjønes, Patricia; Engstrøm, Monica J; Ytterhus, Borgny; Bordin, Diana Lilian; van Loon, Barbara; Akslen, Lars A.; Vatten, Lars Johan; Opdahl, Signe; Bofin, Anna M.. (2018) Characterization of FGD5 expression in primary breast cancers and lymph node metastases. Journal of Histochemistry and Cytochemistry.
Bosshard, Matthias; Aprigliano, Rossana; Gattiker, Cristina; Palibrk, Vuk; Markkanen, Enni; Backe, Paul Hoff; Pellegrino, Stefania; Raymond, F. Lucy; Froyen, Guy; Altmeyer, Matthias; Bjørås, Magnar; Dianov, Grigory L.; van Loon, Barbara. (2017) Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability. Scientific Reports. volum 7:15050.
Martin-Pardillos, Ana; Tsaalbi-Shtylik, Anastasia; Chen, Si; Lazare, Seka; Van Os, Ronald P; Dethmers-Ausema, Albertina; Fakouri, Nima Borhan; Bosshard, Matthias; Aprigliano, Rossana; van Loon, Barbara; Salvatori, Daniela C F; Hashimoto, Keiji; Van Der Spek, Celia Dingemanse; Moriya, Masaaki; Rasmussen, Lene Juel; De Haan, Gerald; Raaijmakers, Marc H G P; de Wind, Niels. (2017) Genomic and functional integrity of the hematopoietic system requires tolerance of oxidative DNA lesions. Blood. volum 130 (13).
Mentegari, Elisa; Crespan, Emmanuele; Bavagnoli, Laura; Kissova, Miroslava; Bertoletti, Federica; Sabbioneda, Simone; Imhof, Ralph; Sturla, Shana J; Nilforoushan, Arman; Hübscher, Ulrich; van Loon, Barbara; Maga, Giovanni. (2017) Ribonucleotide incorporation by human DNA polymerase η impacts translesion synthesis and RNase H2 activity. Nucleic Acids Research (NAR).
Moortgat, Stéphanie; Berland, Siren; Aukrust, Ingvild; Maystadt, Isabelle; Baker, Laura; Benoit, Valerie; Caro-Llopis, Alfonso; Cooper, Nicola S.; Debray, François-Guillaume; Faivre, Laurence; Gardeitchik, Thatjana; Haukanes, Bjørn Ivar; Houge, Gunnar; Kivuva, Emma; Martinez, Francisco; Mehta, Sarju G.; Nassogne, Marie-Cécile; Powell-Hamilton, Nina; Pfundt, Rolph; Rosello, Monica; Prescott, Trine; Vasudevan, Pradeep; van Loon, Barbara; Verellen-Dumoulin, Christine; Verloes, Alain; von der Lippe, Charlotte; Wakeling, Emma; Wilkie, Andrew O.M.; Wilson, Louise; Yuen, Amy; Low, Karen J.; Newbury-Ecob, Ruth A.. (2017) HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. European Journal of Human Genetics. volum 26.
van Loon, Barbara; Hübscher, Ulrich; Maga, Giovanni. (2017) Living on the edge: DNA polymerase lambda between genome stability and mutagenesis. Chemical Research in Toxicology. volum 30 (11).
Räz, Michael H; Dexter, Hannah R; Millington, Christopher L; van Loon, Barbara; Williams, David M; Sturla, Shana J. (2016) Bypass of Mutagenic O6-Carboxymethylguanine DNA Adducts by Human Y- and B-Family Polymerases. Chemical Research in Toxicology. volum 29 (9).

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