Gain of glycosylation in integrin [alpha]3 causes lung disease and nephrotic syndrome
Gain of glycosylation in integrin [alpha]3 causes lung disease and nephrotic syndrome
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Author / Creator
Nicolaou, Nayia , Margadant, Coert , Kevelam, Sietske H , Lilien, Marc R , Oosterveld, Michiel J S , Kreft, Maaike , van Eerde, Albertien M , Pfundt, Rolph , Terhal, Paulien A , van der Zwaag, Bert , Nikkels, Peter G J , Sachs, Norman , Goldschmeding, Roel , Knoers, Nine V A M , Renkema, Kirsten Y and Sonnenberg, Arnoud
Publisher
Ann Arbor: American Society for Clinical Investigation
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Language
English
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Publisher
Ann Arbor: American Society for Clinical Investigation
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Contents
Integrins are transmembrane αβ glycoproteins that connect the extracellular matrix to the cytoskeleton. The laminin-binding integrin α3β1 is expressed at high levels in lung epithelium and in kidney podocytes. In podocytes, α3β1 associates with the tetraspanin CD151 to maintain a functional filtration barrier. Here, we report on a patient homozygou...
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Full title
Gain of glycosylation in integrin [alpha]3 causes lung disease and nephrotic syndrome
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TN_cdi_proquest_journals_1246122997
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_1246122997
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ISSN
0021-9738
E-ISSN
1558-8238
