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  1. Article ; Online: Corrigendum to Flemming J, Marczenke M, Rudolph I-M, et al. Induced pluripotent stem cell-based disease modeling identifies ligand-induced decay of megalin as a cause of Donnai-Barrow syndrome. Kidney Int. 2020;98:159-167.

    Flemming, Julia / Marczenke, Maike / Rudolph, Ina-Maria / Nielsen, Rikke / Storm, Tina / Ilsoe Christensen, Erik / Diecke, Sebastian / Emma, Francesco / Willnow, Thomas E

    Kidney international

    2021  Volume 100, Issue 2, Page(s) 482

    Language English
    Publishing date 2021-07-22
    Publishing country United States
    Document type Published Erratum
    ZDB-ID 120573-0
    ISSN 1523-1755 ; 0085-2538
    ISSN (online) 1523-1755
    ISSN 0085-2538
    DOI 10.1016/j.kint.2021.06.014
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 797: Show issues Location:
    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)

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  2. Article ; Online: Induced pluripotent stem cell-based disease modeling identifies ligand-induced decay of megalin as a cause of Donnai-Barrow syndrome.

    Flemming, Julia / Marczenke, Maike / Rudolph, Ina-Maria / Nielsen, Rikke / Storm, Tina / Erik, Ilsoe Christensen / Diecke, Sebastian / Emma, Francesco / Willnow, Thomas E

    Kidney international

    2020  Volume 98, Issue 1, Page(s) 159–167

    Abstract: Donnai-Barrow syndrome (DBS) is an autosomal-recessive disorder characterized by multiple pathologies including malformation of forebrain and eyes, as well as resorption defects of the kidney proximal tubule. The underlying cause of DBS are mutations in ... ...

    Abstract Donnai-Barrow syndrome (DBS) is an autosomal-recessive disorder characterized by multiple pathologies including malformation of forebrain and eyes, as well as resorption defects of the kidney proximal tubule. The underlying cause of DBS are mutations in LRP2, encoding the multifunctional endocytic receptor megalin. Here, we identified a unique missense mutation R3192Q of LRP2 in an affected family that may provide novel insights into the molecular causes of receptor dysfunction in the kidney proximal tubule and other tissues affected in DBS. Using patient-derived induced pluripotent stem cell lines we generated neuroepithelial and kidney cell types as models of the disease. Using these cell models, we documented the inability of megalin R3192Q to properly discharge ligand and ligand-induced receptor decay in lysosomes. Thus, mutant receptors are aberrantly targeted to lysosomes for catabolism, essentially depleting megalin in the presence of ligand in this affected family.
    MeSH term(s) Agenesis of Corpus Callosum ; Endocytosis ; Hearing Loss, Sensorineural ; Hernias, Diaphragmatic, Congenital ; Humans ; Induced Pluripotent Stem Cells ; Kidney Tubules, Proximal ; Ligands ; Low Density Lipoprotein Receptor-Related Protein-2/genetics ; Myopia ; Proteinuria ; Renal Tubular Transport, Inborn Errors
    Chemical Substances Ligands ; Low Density Lipoprotein Receptor-Related Protein-2
    Language English
    Publishing date 2020-03-24
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 120573-0
    ISSN 1523-1755 ; 0085-2538
    ISSN (online) 1523-1755
    ISSN 0085-2538
    DOI 10.1016/j.kint.2020.02.021
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 797: Show issues Location:
    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)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

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