LIVIVO - Das Suchportal für Lebenswissenschaften

switch to English language
Erweiterte Suche

Suchergebnis

Treffer 1 - 3 von insgesamt 3

Suchoptionen

  1. Artikel ; Online: Generation of three induced pluripotent stem cell lines from a patient with Kabuki syndrome carrying the KMT2D p.R4198X mutation.

    Lager, Tyson W / Zuo, Junjun / Alam, Md Suhail / Calhoun, Barbara / Haldar, Kasturi / Panopoulos, Athanasia D

    Stem cell research

    2022  Band 62, Seite(n) 102799

    Abstract: Kabuki syndrome (KS) is a rare genetic disorder typically characterized by facial abnormalities, developmental delay, cognitive dysfunction, and organ impairment. In this report, fibroblast cells obtained from a KS patient containing a heterozygous KMT2D ...

    Abstract Kabuki syndrome (KS) is a rare genetic disorder typically characterized by facial abnormalities, developmental delay, cognitive dysfunction, and organ impairment. In this report, fibroblast cells obtained from a KS patient containing a heterozygous KMT2D c.12592 C>T mutation (p.R4198X) were reprogrammed using non-integrative Sendai virus to generate three induced pluripotent stem cell (iPSC) clones. The iPSC lines retained the KS patient mutation, and displayed normal karyotypes, pluripotency marker expression, and the ability to differentiate into the three germ layers.
    Mesh-Begriff(e) Abnormalities, Multiple ; Face/abnormalities ; Hematologic Diseases/genetics ; Humans ; Induced Pluripotent Stem Cells ; Mutation/genetics ; Vestibular Diseases/genetics
    Sprache Englisch
    Erscheinungsdatum 2022-05-04
    Erscheinungsland England
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2393143-7
    ISSN 1876-7753 ; 1873-5061
    ISSN (online) 1876-7753
    ISSN 1873-5061
    DOI 10.1016/j.scr.2022.102799
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Volltext online

    Zusatzmaterialien

    Kategorien

    Über subito bestellen

    Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.

  2. Artikel ; Online: Structural basis for single-stranded RNA recognition and cleavage by C3PO.

    Zhang, Jing / Liu, Hehua / Yao, Qingqing / Yu, Xiang / Chen, Yiqing / Cui, Ruixue / Wu, Baixing / Zheng, Lina / Zuo, Junjun / Huang, Zhen / Ma, Jinbiao / Gan, Jianhua

    Nucleic acids research

    2016  Band 44, Heft 19, Seite(n) 9494–9504

    Abstract: Translin and translin-associated factor-x are highly conserved in eukaroytes; they can form heteromeric complexes (known as C3POs) and participate in various nucleic acid metabolism pathways. In humans and Drosophila, C3POs cleave the fragmented siRNA ... ...

    Abstract Translin and translin-associated factor-x are highly conserved in eukaroytes; they can form heteromeric complexes (known as C3POs) and participate in various nucleic acid metabolism pathways. In humans and Drosophila, C3POs cleave the fragmented siRNA passenger strands and facilitate the activation of RNA-induced silencing complex, the effector complex of RNA interference (RNAi). Here, we report three crystal structures of Nanoarchaeum equitans (Ne) C3PO. The apo-NeC3PO structure adopts an open form and unravels a potential substrates entryway for the first time. The NeC3PO:ssRNA and NeC3PO:ssDNA complexes fold like closed football with the substrates captured at the inner cavities. The NeC3PO:ssRNA structure represents the only catalytic form C3PO complex available to date; with mutagenesis and in vitro cleavage assays, the structure provides critical insights into the substrate binding and the two-cation-assisted catalytic mechanisms that are shared by eukaryotic C3POs. The work presented here further advances our understanding on the RNAi pathway.
    Mesh-Begriff(e) Archaeal Proteins/chemistry ; Archaeal Proteins/metabolism ; Binding Sites ; Cations/chemistry ; Models, Molecular ; Molecular Conformation ; Protein Binding ; RNA/chemistry ; RNA/metabolism ; RNA Cleavage ; RNA-Binding Proteins/chemistry ; RNA-Binding Proteins/metabolism ; Ribonucleases/chemistry ; Ribonucleases/metabolism ; Structure-Activity Relationship ; Substrate Specificity
    Chemische Substanzen Archaeal Proteins ; Cations ; RNA-Binding Proteins ; RNA (63231-63-0) ; Ribonucleases (EC 3.1.-)
    Sprache Englisch
    Erscheinungsdatum 2016-11-02
    Erscheinungsland England
    Dokumenttyp Journal Article
    ZDB-ID 186809-3
    ISSN 1362-4962 ; 1362-4954 ; 0301-5610 ; 0305-1048
    ISSN (online) 1362-4962 ; 1362-4954
    ISSN 0301-5610 ; 0305-1048
    DOI 10.1093/nar/gkw776
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Zusatzmaterialien

    Kategorien

    Verfügbar in ZB MED Köln/Königswinter

    Zs.A 1067: Hefte anzeigen Standort:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Über subito bestellen

    Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.

  3. Artikel ; Online: RIPK1-mediated induction of mitophagy compromises the viability of extracellular-matrix-detached cells.

    Hawk, Mark A / Gorsuch, Cassandra L / Fagan, Patrick / Lee, Chan / Kim, Sung Eun / Hamann, Jens C / Mason, Joshua A / Weigel, Kelsey J / Tsegaye, Matyas Abel / Shen, Luqun / Shuff, Sydney / Zuo, Junjun / Hu, Stephan / Jiang, Lei / Chapman, Sarah / Leevy, W Matthew / DeBerardinis, Ralph J / Overholtzer, Michael / Schafer, Zachary T

    Nature cell biology

    2018  Band 20, Heft 3, Seite(n) 272–284

    Abstract: For cancer cells to survive during extracellular matrix (ECM) detachment, they must inhibit anoikis and rectify metabolic deficiencies that cause non-apoptotic cell death. Previous studies in ECM-detached cells have linked non-apoptotic cell death to ... ...

    Abstract For cancer cells to survive during extracellular matrix (ECM) detachment, they must inhibit anoikis and rectify metabolic deficiencies that cause non-apoptotic cell death. Previous studies in ECM-detached cells have linked non-apoptotic cell death to reactive oxygen species (ROS) generation, although the mechanistic underpinnings of this link remain poorly defined. Here, we uncover a role for receptor-interacting protein kinase 1 (RIPK1) in the modulation of ROS and cell viability during ECM detachment. We find that RIPK1 activation during ECM detachment results in mitophagy induction through a mechanism dependent on the mitochondrial phosphatase PGAM5. As a consequence of mitophagy, ECM-detached cells experience diminished NADPH production in the mitochondria, and the subsequent elevation in ROS levels leads to non-apoptotic death. Furthermore, we find that antagonizing RIPK1/PGAM5 enhances tumour formation in vivo. Thus, RIPK1-mediated induction of mitophagy may be an efficacious target for therapeutics aimed at eliminating ECM-detached cancer cells.
    Mesh-Begriff(e) Animals ; Cell Adhesion ; Cell Movement ; Cell Proliferation ; Cell Survival ; Epithelial Cells/enzymology ; Epithelial Cells/pathology ; Extracellular Matrix/metabolism ; Extracellular Matrix/pathology ; Female ; HCT116 Cells ; HeLa Cells ; Humans ; Mammary Glands, Human/enzymology ; Mammary Glands, Human/pathology ; Mice, Nude ; Mitochondria/enzymology ; Mitochondria/pathology ; Mitochondrial Proteins/genetics ; Mitochondrial Proteins/metabolism ; Mitophagy ; NADP/metabolism ; Neoplasm Metastasis ; Neoplasms/enzymology ; Neoplasms/genetics ; Neoplasms/pathology ; Phosphoprotein Phosphatases/genetics ; Phosphoprotein Phosphatases/metabolism ; Reactive Oxygen Species/metabolism ; Receptor-Interacting Protein Serine-Threonine Kinases/genetics ; Receptor-Interacting Protein Serine-Threonine Kinases/metabolism ; Signal Transduction ; Tumor Burden
    Chemische Substanzen Mitochondrial Proteins ; Reactive Oxygen Species ; NADP (53-59-8) ; RIPK1 protein, human (EC 2.7.11.1) ; Receptor-Interacting Protein Serine-Threonine Kinases (EC 2.7.11.1) ; PGAM5 protein, human (EC 3.1.3.16) ; Phosphoprotein Phosphatases (EC 3.1.3.16)
    Sprache Englisch
    Erscheinungsdatum 2018-02-19
    Erscheinungsland England
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1474722-4
    ISSN 1476-4679 ; 1465-7392
    ISSN (online) 1476-4679
    ISSN 1465-7392
    DOI 10.1038/s41556-018-0034-2
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Zusatzmaterialien

    Kategorien

    Verfügbar in ZB MED Köln/Königswinter

    Zs.A 5169: Hefte anzeigen Standort:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MG 12: Hefte anzeigen

    Über subito bestellen

    Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.

Zum Seitenanfang