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  1. Article ; Online: Congenital Diseases of DNA Replication

    Megan Schmit / Anja-Katrin Bielinsky

    International Journal of Molecular Sciences, Vol 22, Iss 2, p

    Clinical Phenotypes and Molecular Mechanisms

    2021  Volume 911

    Abstract: Deoxyribonucleic acid (DNA) replication can be divided into three major steps: initiation, elongation and termination. Each time a human cell divides, these steps must be reiteratively carried out. Disruption of DNA replication can lead to genomic ... ...

    Abstract Deoxyribonucleic acid (DNA) replication can be divided into three major steps: initiation, elongation and termination. Each time a human cell divides, these steps must be reiteratively carried out. Disruption of DNA replication can lead to genomic instability, with the accumulation of point mutations or larger chromosomal anomalies such as rearrangements. While cancer is the most common class of disease associated with genomic instability, several congenital diseases with dysfunctional DNA replication give rise to similar DNA alterations. In this review, we discuss all congenital diseases that arise from pathogenic variants in essential replication genes across the spectrum of aberrant replisome assembly, origin activation and DNA synthesis. For each of these conditions, we describe their clinical phenotypes as well as molecular studies aimed at determining the functional mechanisms of disease, including the assessment of genomic stability. By comparing and contrasting these diseases, we hope to illuminate how the disruption of DNA replication at distinct steps affects human health in a surprisingly cell-type-specific manner.
    Keywords Meier-Gorlin syndrome ; natural killer cell deficiency ; X-linked pigmentary reticulate disorder ; Van Esch-O’Driscoll disease ; IMAGe syndrome ; FILS syndrome ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
    Language English
    Publishing date 2021-01-01T00:00:00Z
    Publisher MDPI AG
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.

    Schmit, Megan / Bielinsky, Anja-Katrin

    International journal of molecular sciences

    2021  Volume 22, Issue 2

    Abstract: Deoxyribonucleic acid (DNA) replication can be divided into three major steps: initiation, elongation and termination. Each time a human cell divides, these steps must be reiteratively carried out. Disruption of DNA replication can lead to genomic ... ...

    Abstract Deoxyribonucleic acid (DNA) replication can be divided into three major steps: initiation, elongation and termination. Each time a human cell divides, these steps must be reiteratively carried out. Disruption of DNA replication can lead to genomic instability, with the accumulation of point mutations or larger chromosomal anomalies such as rearrangements. While cancer is the most common class of disease associated with genomic instability, several congenital diseases with dysfunctional DNA replication give rise to similar DNA alterations. In this review, we discuss all congenital diseases that arise from pathogenic variants in essential replication genes across the spectrum of aberrant replisome assembly, origin activation and DNA synthesis. For each of these conditions, we describe their clinical phenotypes as well as molecular studies aimed at determining the functional mechanisms of disease, including the assessment of genomic stability. By comparing and contrasting these diseases, we hope to illuminate how the disruption of DNA replication at distinct steps affects human health in a surprisingly cell-type-specific manner.
    MeSH term(s) Craniosynostoses/genetics ; Craniosynostoses/immunology ; DNA Replication/genetics ; DNA Replication/immunology ; Genomic Instability/genetics ; Genomic Instability/immunology ; Humans ; Mutation/genetics ; Neoplasms/epidemiology ; Neoplasms/genetics ; Phenotype ; RecQ Helicases/genetics ; RecQ Helicases/immunology
    Chemical Substances RecQ Helicases (EC 3.6.4.12)
    Language English
    Publishing date 2021-01-18
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms22020911
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Mcm10: The glue at replication forks.

    Bielinsky, Anja-Katrin

    Cell cycle (Georgetown, Tex.)

    2016  Volume 15, Issue 22, Page(s) 3024–3025

    MeSH term(s) Adhesives ; Cell Cycle Proteins/genetics ; DNA Replication ; Minichromosome Maintenance Proteins/genetics ; Replication Origin
    Chemical Substances Adhesives ; Cell Cycle Proteins ; Minichromosome Maintenance Proteins (EC 3.6.4.12)
    Language English
    Publishing date 2016-08-02
    Publishing country United States
    Document type News ; Comment
    ZDB-ID 2146183-1
    ISSN 1551-4005 ; 1538-4101 ; 1554-8627
    ISSN (online) 1551-4005
    ISSN 1538-4101 ; 1554-8627
    DOI 10.1080/15384101.2016.1216925
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 5881: Show issues Location:
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  4. Article ; Online: A critical threshold of MCM10 is required to maintain genome stability during differentiation of induced pluripotent stem cells into natural killer cells.

    Schmit, Megan M / Baxley, Ryan M / Wang, Liangjun / Hinderlie, Peter / Kaufman, Marissa / Simon, Emily / Raju, Anjali / Miller, Jeffrey S / Bielinsky, Anja-Katrin

    Open biology

    2024  Volume 14, Issue 1, Page(s) 230407

    Abstract: Natural killer (NK) cell deficiency (NKD) is a rare disease in which NK cell function is reduced, leaving affected individuals susceptible to repeated viral infections and cancer. Recently, a patient with NKD was identified carrying compound heterozygous ...

    Abstract Natural killer (NK) cell deficiency (NKD) is a rare disease in which NK cell function is reduced, leaving affected individuals susceptible to repeated viral infections and cancer. Recently, a patient with NKD was identified carrying compound heterozygous variants of
    MeSH term(s) Humans ; Induced Pluripotent Stem Cells ; Cell Differentiation ; Genes, Essential ; Genomic Instability ; Killer Cells, Natural ; Minichromosome Maintenance Proteins
    Chemical Substances MCM10 protein, human ; Minichromosome Maintenance Proteins (EC 3.6.4.12)
    Language English
    Publishing date 2024-01-24
    Publishing country England
    Document type Journal Article
    ZDB-ID 2630944-0
    ISSN 2046-2441 ; 2046-2441
    ISSN (online) 2046-2441
    ISSN 2046-2441
    DOI 10.1098/rsob.230407
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  5. Article ; Online: RNF4 prevents genomic instability caused by chronic DNA under-replication.

    Oram, Marissa K / Baxley, Ryan M / Simon, Emily M / Lin, Kevin / Chang, Ya-Chu / Wang, Liangjun / Myers, Chad L / Bielinsky, Anja-Katrin

    DNA repair

    2024  Volume 135, Page(s) 103646

    Abstract: Eukaryotic genome stability is maintained by a complex and diverse set of molecular processes. One class of enzymes that promotes proper DNA repair, replication and cell cycle progression comprises small ubiquitin-like modifier (SUMO)-targeted E3 ligases, ...

    Abstract Eukaryotic genome stability is maintained by a complex and diverse set of molecular processes. One class of enzymes that promotes proper DNA repair, replication and cell cycle progression comprises small ubiquitin-like modifier (SUMO)-targeted E3 ligases, or STUbLs. Previously, we reported a role for the budding yeast STUbL synthetically lethal with sgs1 (Slx) 5/8 in preventing G
    MeSH term(s) Humans ; Genomic Instability ; DNA Repair ; DNA Replication ; Mitosis ; Saccharomyces cerevisiae/genetics ; Nuclear Proteins/genetics ; Transcription Factors
    Chemical Substances RNF4 protein, human ; Nuclear Proteins ; Transcription Factors
    Language English
    Publishing date 2024-02-07
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2071608-4
    ISSN 1568-7856 ; 1568-7864
    ISSN (online) 1568-7856
    ISSN 1568-7864
    DOI 10.1016/j.dnarep.2024.103646
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 5555: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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  6. Article ; Online: Penetrating enemy territory: Soluble PCNA-peptides stress out MYCN-overexpressing neuroblastomas.

    Bielinsky, Anja-Katrin

    EBioMedicine

    2015  Volume 2, Issue 12, Page(s) 1844–1845

    MeSH term(s) Neuroblastoma ; Oncogene Proteins ; Peptides ; Proliferating Cell Nuclear Antigen
    Chemical Substances Oncogene Proteins ; Peptides ; Proliferating Cell Nuclear Antigen
    Language English
    Publishing date 2015-12-17
    Publishing country Netherlands
    Document type Journal Article ; Comment
    ZDB-ID 2851331-9
    ISSN 2352-3964
    ISSN (online) 2352-3964
    DOI 10.1016/j.ebiom.2015.12.012
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 7090: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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  7. Article ; Online: SUMO-Targeted Ubiquitin Ligases and Their Functions in Maintaining Genome Stability.

    Chang, Ya-Chu / Oram, Marissa K / Bielinsky, Anja-Katrin

    International journal of molecular sciences

    2021  Volume 22, Issue 10

    Abstract: Small ubiquitin-like modifier (SUMO)-targeted E3 ubiquitin ligases (STUbLs) are specialized enzymes that recognize SUMOylated proteins and attach ubiquitin to them. They therefore connect the cellular SUMOylation and ubiquitination circuits. STUbLs ... ...

    Abstract Small ubiquitin-like modifier (SUMO)-targeted E3 ubiquitin ligases (STUbLs) are specialized enzymes that recognize SUMOylated proteins and attach ubiquitin to them. They therefore connect the cellular SUMOylation and ubiquitination circuits. STUbLs participate in diverse molecular processes that span cell cycle regulated events, including DNA repair, replication, mitosis, and transcription. They operate during unperturbed conditions and in response to challenges, such as genotoxic stress. These E3 ubiquitin ligases modify their target substrates by catalyzing ubiquitin chains that form different linkages, resulting in proteolytic or non-proteolytic outcomes. Often, STUbLs function in compartmentalized environments, such as the nuclear envelope or kinetochore, and actively aid in nuclear relocalization of damaged DNA and stalled replication forks to promote DNA repair or fork restart. Furthermore, STUbLs reside in the same vicinity as SUMO proteases and deubiquitinases (DUBs), providing spatiotemporal control of their targets. In this review, we focus on the molecular mechanisms by which STUbLs help to maintain genome stability across different species.
    MeSH term(s) Animals ; DNA Repair/genetics ; Genomic Instability/genetics ; Humans ; Small Ubiquitin-Related Modifier Proteins/genetics ; Sumoylation/genetics ; Ubiquitin/genetics ; Ubiquitin-Protein Ligases/genetics
    Chemical Substances Small Ubiquitin-Related Modifier Proteins ; Ubiquitin ; Ubiquitin-Protein Ligases (EC 2.3.2.27)
    Language English
    Publishing date 2021-05-20
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms22105391
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  8. Article ; Online: SUMO-Targeted Ubiquitin Ligases and Their Functions in Maintaining Genome Stability

    Ya-Chu Chang / Marissa K. Oram / Anja-Katrin Bielinsky

    International Journal of Molecular Sciences, Vol 22, Iss 5391, p

    2021  Volume 5391

    Abstract: Small ubiquitin-like modifier (SUMO)-targeted E3 ubiquitin ligases (STUbLs) are specialized enzymes that recognize SUMOylated proteins and attach ubiquitin to them. They therefore connect the cellular SUMOylation and ubiquitination circuits. STUbLs ... ...

    Abstract Small ubiquitin-like modifier (SUMO)-targeted E3 ubiquitin ligases (STUbLs) are specialized enzymes that recognize SUMOylated proteins and attach ubiquitin to them. They therefore connect the cellular SUMOylation and ubiquitination circuits. STUbLs participate in diverse molecular processes that span cell cycle regulated events, including DNA repair, replication, mitosis, and transcription. They operate during unperturbed conditions and in response to challenges, such as genotoxic stress. These E3 ubiquitin ligases modify their target substrates by catalyzing ubiquitin chains that form different linkages, resulting in proteolytic or non-proteolytic outcomes. Often, STUbLs function in compartmentalized environments, such as the nuclear envelope or kinetochore, and actively aid in nuclear relocalization of damaged DNA and stalled replication forks to promote DNA repair or fork restart. Furthermore, STUbLs reside in the same vicinity as SUMO proteases and deubiquitinases (DUBs), providing spatiotemporal control of their targets. In this review, we focus on the molecular mechanisms by which STUbLs help to maintain genome stability across different species.
    Keywords genome stability ; STUbL ; SUMO ; ubiquitin ; Slx5/Slx8 ; RNF4 ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
    Subject code 570
    Language English
    Publishing date 2021-05-01T00:00:00Z
    Publisher MDPI AG
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  9. Article ; Online: Penetrating enemy territory

    Anja-Katrin Bielinsky

    EBioMedicine, Vol 2, Iss 12, Pp 1844-

    Soluble PCNA-peptides stress out MYCN-overexpressing neuroblastomas

    2015  Volume 1845

    Keywords Medicine ; R ; Medicine (General) ; R5-920
    Language English
    Publishing date 2015-12-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  10. Article ; Online: Fanconi anemia-associated chromosomal radial formation is dependent on POLθ-mediated alternative end joining.

    Rogers, Colette B / Kram, Rachel E / Lin, Kevin / Myers, Chad L / Sobeck, Alexandra / Hendrickson, Eric A / Bielinsky, Anja-Katrin

    Cell reports

    2023  Volume 42, Issue 5, Page(s) 112428

    Abstract: Activation of the Fanconi anemia (FA) pathway after treatment with mitomycin C (MMC) is essential for preventing chromosome translocations termed "radials." When replication forks stall at MMC-induced interstrand crosslinks (ICLs), the FA pathway is ... ...

    Abstract Activation of the Fanconi anemia (FA) pathway after treatment with mitomycin C (MMC) is essential for preventing chromosome translocations termed "radials." When replication forks stall at MMC-induced interstrand crosslinks (ICLs), the FA pathway is activated to orchestrate ICL unhooking and repair of the DNA break intermediates. However, in FA-deficient cells, how ICL-associated breaks are resolved in a manner that leads to radials is unclear. Here, we demonstrate that MMC-induced radials are dependent on DNA polymerase theta (POLθ)-mediated alternative end joining (A-EJ). Specifically, we show that radials observed in FANCD2
    MeSH term(s) Humans ; Fanconi Anemia/genetics ; Fanconi Anemia/metabolism ; Fanconi Anemia Complementation Group D2 Protein/genetics ; Fanconi Anemia Complementation Group D2 Protein/metabolism ; Chromosomes/metabolism ; DNA End-Joining Repair ; Mitomycin ; DNA Repair
    Chemical Substances Fanconi Anemia Complementation Group D2 Protein ; Mitomycin (50SG953SK6)
    Language English
    Publishing date 2023-04-21
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 2649101-1
    ISSN 2211-1247 ; 2211-1247
    ISSN (online) 2211-1247
    ISSN 2211-1247
    DOI 10.1016/j.celrep.2023.112428
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