Please use this identifier to cite or link to this item:
http://hdl.handle.net/2445/168230
Title: | Integrin-linked kinase controls retinal angiogenesis and is linked to wnt signaling and exudative vitreoretinopathy |
Author: | Park, Hongryeol Yamamoto, Hiroyuki Mohn, Lucas Ambühl, Lea Kanai, Kenichi Schmidt, Inga Kim, Kee-Pyo Fraccaroli, Alessia Feil, Silke Montañez, Eloi Berger, Wolfgang Adams, Ralf H. |
Keywords: | Malalties de la retina Metabolisme Cèl·lules Genètica Proteïnes quinases Retinal diseases Metabolism Cells Genetics Protein kinases |
Issue Date: | 20-Nov-2019 |
Publisher: | Nature Publishing Group |
Abstract: | Familial exudative vitreoretinopathy (FEVR) is a human disease characterized by defective retinal angiogenesis and associated complications that can result in vision loss. Defective Wnt/β-catenin signaling is an established cause of FEVR, whereas other molecular alterations contributing to the disease remain insufficiently understood. Here, we show that integrin-linked kinase (ILK), a mediator of cell-matrix interactions, is indispensable for retinal angiogenesis. Inactivation of the murine Ilk gene in postnatal endothelial cells results in sprouting defects, reduced endothelial proliferation and disruption of the blood-retina barrier, resembling phenotypes seen in established mouse models of FEVR. Retinal vascularization defects are phenocopied by inducible inactivation of the gene for α-parvin (Parva), an interactor of ILK. Screening genomic DNA samples from exudative vitreoretinopathy patients identifies three distinct mutations in human ILK, which compromise the function of the gene product in vitro. Together, our data suggest that defective cell-matrix interactions are linked to Wnt signaling and FEVR. |
Note: | Reproducció del document publicat a: https://doi.org/10.1038/s41467-019-13220-3 |
It is part of: | Nature Communications, 2019, vol. 10, num. 1, p. 5243 |
URI: | http://hdl.handle.net/2445/168230 |
Related resource: | https://doi.org/10.1038/s41467-019-13220-3 |
ISSN: | 2041-1723 |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) Articles publicats en revistes (Ciències Fisiològiques) |
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