Browsing NTNU Open by Author "van Loon, Barbara"
Now showing items 1-19 of 19
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Alkyladenine DNA glycosylase associates with transcription elongation to coordinate DNA repair with gene expression
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 (Journal article; Peer reviewed, 2019)Base excision repair (BER) initiated by alkyladenine DNA glycosylase (AAG) is essential for removal of aberrantly methylated DNA bases. Genome instability and accumulation of aberrant bases accompany multiple diseases, ... -
Characterization of FGD5 expression in primary breast cancers and lymph node metastases
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. (Journal article; Peer reviewed, 2018)Faciogenital dysplasia 5 (FGD5) amplification drives tumor cell proliferation, and is present in 9.5% of breast cancers. We describe FGD5 expression, assess associations between FGD5 amplification and FGD5 expression, and ... -
Cooperative interaction between AAG and UV-DDB in the removal of modified bases
Jang, Sunbok; Kumar, Namrata; Schaich, Mathew A.; Zhong, Zhou; van Loon, Barbara; Watkins, Simon C.; Van Houten, Bennett (Peer reviewed; Journal article, 2022)UV-DDB is a DNA damage recognition protein recently discovered to participate in the removal of 8-oxo-7,8-dihydro-2′-deoxyguanosine (8-oxoG) by stimulating multiple steps of base excision repair (BER). In this study, we ... -
Generation and Characterization of Induced Pluripotent Stem Cells from Individuals Affected by Metachromatic Leukodystrophy
Berg, Martine Engebakken (Master thesis, 2024)Metakromatisk leukodystrofi (MLD) er en ødeleggende lysosomal avleiringssykdom (LSD) forårsaket av mangel på enzymet arylsulfatase A (ARSA). Dette enzymet spiller en avgjørende rolle i nedbrytningen av sulfatider, som er ... -
Human metapneumovirus driven IFN-β production antagonizes macrophage transcriptional induction of IL1-β in response to bacterial pathogens
Loevenich, Simon; Montaldo, Nicola Pietro; Wickenhagen, Arthur; Sherstova, Tatyana; van Loon, Barbara; Boyartchuk, Victor; Anthonsen, Marit Walbye (Journal article; Peer reviewed, 2023) -
Impact of altered Alkyladenine DNA glycosylase expression on hippocampal cytoarchitecture
Grooms, Kayla Mae (Master thesis, 2020)DNA damage can be caused through exposure to both exogenous and endogenous agents. Through by-products of physiological cellular processes neurons are constantly exposed to agents that can induce DNA base lesions. Base ... -
Impact of DNA glycosylase activity on gene expression
Andersen, Petter Inge (Master thesis, 2021)Abstract will be available on 2024-05-30 -
Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability
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 (Journal article; Peer reviewed, 2017)Mutations in the HECT, UBA and WWE domain-containing 1 (HUWE1) E3 ubiquitin ligase cause neurodevelopmental disorder X-linked intellectual disability (XLID). HUWE1 regulates essential processes such as genome integrity ... -
Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilities
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 (Peer reviewed; Journal article, 2021)Essential E3 ubiquitin ligase HUWE1 (HECT, UBA, and WWE domain containing 1) regulates key factors, such as p53. Although mutations in HUWE1 cause heterogenous neurodevelopmental X-linked intellectual disabilities (XLIDs), ... -
Loss of alkyladenine DNA glycosylase alters gene expression in the developing mouse brain and leads to reduced anxiety and improved memory
Bordin, Diana Lilian; Grooms, Kayla Mae; Montaldo, Nicola Pietro; Fordyce Martin, Sarah Louise; Sætrom, Pål; Samson, Leona D.; Bjørås, Magnar; van Loon, Barbara (Journal article; Peer reviewed, 2024)Neurodevelopment is a tightly coordinated process, during which the genome is exposed to spectra of endogenous agents at different stages of differentiation. Emerging evidence indicates that DNA damage is an important ... -
Loss of Mediator complex subunit 13 (MED13) promotes resistance to alkylation through cyclin D1 upregulation
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 (Peer reviewed; Journal article, 2020)Alkylating drugs are among the most often used chemotherapeutics. While cancer cells frequently develop resistance to alkylation treatments, detailed understanding of mechanisms that lead to the resistance is limited. Here, ... -
A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial–temporal regulation of histone arginine methylation in neurodevelopment
Lin, Xiaolin; Wang, Wei; Yang, Mingyi; Damseh, Nadirah; Sousa, Mirta; Jacob, Fadi; lång, anna ulrika; Kristiansen, Elise; Pannone, Marco; Kissova, Miroslava; Almaas, Runar; Kusnierczyk, Anna; Siller, Richard; Shahrour, Maher; Al-Ashhab, Motee; Abu-Libdeh, Bassam; Tang, Wannan; Slupphaug, Geir; Elpeleg, Orly; Bøe, Stig Ove; Eide, Lars; Sullivan, Gareth John; Rinholm, Johanne Egge; Song, Hongjun; Ming, Guo-li; van Loon, Barbara; Edvardson, Simon; Ye, Jing; Bjørås, Magnar (Peer reviewed; Journal article, 2023)Background Oxidation Resistance 1 (OXR1) gene is a highly conserved gene of the TLDc domain-containing family. OXR1 is involved in fundamental biological and cellular processes, including DNA damage response, antioxidant ... -
Modeling neurodevelopment in 2D and 3D cultures with different DNA glycosylase backgrounds
Glesaaen, Emilie Rylund (Master thesis, 2019)The brain is under constant attack from exogenous and endogenous sources of DNA damage, and due to the non-proliferative identity of the neuronal cells, a highly functional repair systems need to be in place. One of the ... -
Regulation of tRNA wobble modifications
Ingrid Marie Moberg (Master thesis, 2021)Abstract will be available on 2026-06-07 -
Relevance of transcription regulator MED13 in response of brain tumour cells to the alkylation therapy
Aksu, Merdane Ezgi (Master thesis, 2020) -
Removal of DNA lesions in the presence of epigenetic marks
Dumaru, Rabina (Master thesis, 2021)Abstract will be available on 2026-07-01 -
The role of Alkyladenine DNA glycosylase (AAG) beyond canonical base excision repair
Brambilla, Alessandro (Doctoral theses at NTNU;2021:256, Doctoral thesis, 2021) -
The sperm chromatin structure assay does not detect alterations in sperm chromatin structure induced by hydrogen peroxide
Bittner-Schwerda, L.; Malama, E.; Siuda, M.; van Loon, Barbara; Bollwein, H. (Journal article, 2022) -
Towards modeling of neuronal networks in HUWE1-induced XLID
Ask, Torvald Fossåen (Master thesis, 2020)Intellektuell forstyrrelse (ID) er en utviklingsforstyrrelse karakterisert av manglende intellektuelle funksjoner og adaptive evner. Denne lidelsen rammer tilnærmet 2% av den vestlige populasjonen. X-koblet ID (XLID) er ...