Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome
Gain of glycosylation in integrin α3 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
United States: American Society for Clinical Investigation
Journal title
Language
English
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Publication information
Publisher
United States: American Society for Clinical Investigation
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Scope and Contents
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...
Alternative Titles
Full title
Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome
Authors, Artists and Contributors
Author / Creator
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3533548
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3533548
Other Identifiers
ISSN
0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI64100
