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Barbara van Loon

Barbara van Loon

Professor, Nestleder forskning og innovasjon
Institutt for klinisk og molekylær medisin
Fakultet for medisin og helsevitenskap

barbara.v.loon@ntnu.no
73598423 Laboratoriesenteret, 231.05.054, Øya, Erling Skjalgssons gt 1, 7491 Trondheim
ResearchGate Scopus Google Scholar PubMed ORCID
Om Forskning Publikasjoner Undervisning Formidling

Om

Short biography:

Barbara van Loon has completed undergraduate studies at the University of Zagreb (Croatia) and was awarded PhD degree with honours from the University of Zurich (Switzerland). After Postdoctoral stay at the Massachusetts Institute of Technology (USA), van Loon returned to the University of Zurich and established her research group. In 2016 van Loon was awarded Onsager Fellowship and joined the Norwegian University of Science and Technology (Norway), Faculty of Medicine and Health Sciences. Van Loon is a full-professor and is currently serving as deputy leader for research and innovation at the Department of Clinical and Molecular Medicine (IKOM). Research of Barbara van Loon focuses of understanding how altered genome dynamics, through imbalanced base excision repair (BER), impacts essential cellular processes relevant for physiological and pathological development.

Accumulation of damaged DNA bases underlies aging, cancer development, as well as different brain diseases. To overcome adverse effects thousands of alkylated DNA bases need to be efficiently handled by BER in each cell of our body every day. By combining biochemical, molecular and cell-based assays we recently provided evidence that repair of alkylated bases is in crosstalk with active transcription and impacts gene expression. Using a genome-wide CRISPR/Cas9 screen, we further identified transcriptional components as important modulators of cancer cell responses to alkylating drugs. Through development of novel stem cell and brain organoid models of rare genetic diseases we provide evidence that genome dynamics is essential for human development, to overcome the onset of neurodevelopmental syndromes. For the studies on the cellular response to DNA damage and its impact on cancer and developmental disorders in the nervous system, Barbara van Loon was awarded the 2021 Anders Jahre Young Researcher Award.

 

Kompetanseord

  • DNA repair
  • alkylation
  • base damage
  • genotype phenotype relations
  • modifications
  • neurodevelopment
  • rare genetic diseases

Forskning

Research group: "Genome dynamics during physiological and disease development"

 

 

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)
  • Rabina Dumaru (https://www.ntnu.no/ansatte/rabina.dumaru)
  • 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

 

  • DNA base modifications and chromatin integrity

Publikasjoner

  • Kronologisk
  • Etter kategori
  • Se alle publikasjoner i Cristin

2022

  • Bittner-Schwerda, L.; Malama, E.; Siuda, M.; van Loon, Barbara; Bollwein, H.. (2022) The sperm chromatin structure assay does not detect alterations in sperm chromatin structure induced by hydrogen peroxide. Animal Reproduction Science. volum 247.
    Vitenskapelig artikkel
  • Jang, Sunbok; Kumar, Namrata; Schaich, Mathew A.; Zhong, Zhou; van Loon, Barbara; Watkins, Simon C.; Van Houten, Bennett. (2022) Cooperative interaction between AAG and UV-DDB in the removal of modified bases. Nucleic Acids Research (NAR). volum 50 (22).
    Vitenskapelig artikkel

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).
    Vitenskapelig artikkel
  • 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).
    Vitenskapelig artikkel

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).
    Vitenskapelig artikkel

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).
    Vitenskapelig artikkel
  • 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. (2018) Publisher Correction: Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability. Scientific Reports. volum 8 (1).
    Errata
  • 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.
    Vitenskapelig artikkel

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.
    Vitenskapelig artikkel
  • 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).
    Vitenskapelig artikkel
  • 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).
    Vitenskapelig artikkel
  • 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.
    Vitenskapelig artikkel
  • 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).
    Vitenskapelig oversiktsartikkel/review

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).
    Vitenskapelig artikkel

Vitenskapelige artikler

  • Bittner-Schwerda, L.; Malama, E.; Siuda, M.; van Loon, Barbara; Bollwein, H.. (2022) The sperm chromatin structure assay does not detect alterations in sperm chromatin structure induced by hydrogen peroxide. Animal Reproduction Science. volum 247.
    Vitenskapelig artikkel
  • Jang, Sunbok; Kumar, Namrata; Schaich, Mathew A.; Zhong, Zhou; van Loon, Barbara; Watkins, Simon C.; Van Houten, Bennett. (2022) Cooperative interaction between AAG and UV-DDB in the removal of modified bases. Nucleic Acids Research (NAR). volum 50 (22).
    Vitenskapelig artikkel
  • 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).
    Vitenskapelig artikkel
  • 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).
    Vitenskapelig artikkel
  • 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).
    Vitenskapelig artikkel
  • 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).
    Vitenskapelig artikkel
  • 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.
    Vitenskapelig artikkel
  • 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.
    Vitenskapelig artikkel
  • 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).
    Vitenskapelig artikkel
  • 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).
    Vitenskapelig artikkel
  • 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.
    Vitenskapelig artikkel
  • 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).
    Vitenskapelig artikkel

Tidsskriftspublikasjoner

  • 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. (2018) Publisher Correction: Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability. Scientific Reports. volum 8 (1).
    Errata
  • 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).
    Vitenskapelig oversiktsartikkel/review

Undervisning

Emner

  • MOL3000 - Innføring i molekylærmedisin
  • MOL3100 - Innføring i molekylærmedisin med prosjektoppgave

Veiledning

Currently supervising two PhD students and three Master Students.

Formidling

Keeping DNA healthy

DNA contains information of life and is an essential biomolecule in each cell of our body. To stay healthy, it is crucial to preserve DNA information. In this TEDx talk I discusses how we can contribute to keeping healthy our DNA and with it ourselves.

Dyrket minihjerner og fant nøkkelen til uvanlige syndrom

NTNU-forsker fant at flere sjeldne diagnoser har en felles årsak. «Skurken» er også kjent for å forårsake kreft.

Mini-brains reveal cause of rare syndromes

The culprit behind a large number of cancerous tumours is known to be a certain protein. Now for the first time, research shows that the same protein is the cause of several rare brain syndromes.

Fant samtalen som finner sted i menneskets DNA

Et nytt funn om hvordan celler reparerer seg selv, kan ha betydning for hvordan fremtidens kreftmedisiner skal lages.

Cross-talk between enzymes that read and correct recipes in the cookbook of life

Even the best chef can make mistakes – even when using the recipes (genes) from the “cookbook of life” — DNA. A new discovery as to how cells repair their DNA may have implications for the future drug development.

Skrur av gener for å finne bedre kreftbehandling

Hvilke celler dør og hvilke overlever når de blir behandlet med en spesiell type cellegift? Svaret kan gi kreftsyke en mer effektiv behandling med færre bivirkninger.

Turning genes off for better cancer treatment

Towards new cancer treatments.

2019

  • Poster
    Anthonsen, Marit Walbye; Boyartchuk, Victor; Loevenich, Simon; van Loon, Barbara; Montaldo, Nicola Pietro; Sherstova, Tatyana. (2019) Human metapneumovirus impairs antibacterial transcription by introducing H3K27 trimethylation at the IL1B promoter. Conference on Molecular Mechanisms of Inflammation . CEMIR/NTNU; Trondheim. 2019-06-03 - 2019-06-06.
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