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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
Proteïnes quinases
Retinal diseases
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:
It is part of: Nature Communications, 2019, vol. 10, num. 1, p. 5243
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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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