Collagen IV(α345) dysfunction in glomerular basement membrane diseases. I. Discovery of a COL4A3 variant in familial Goodpasture’s and Alport diseases

Diseases of the glomerular basement membrane (GBM), such as Goodpasture’s disease (GP) and Alport syndrome (AS), are a major cause of chronic kidney failure and an unmet medical need. Collagen IV(α345) is an important architectural element of the GBM that was discovered in previous research on GP an...

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Veröffentlicht in:J Biol Chem
Hauptverfasser: Pokidysheva, Elena N., Seeger, Harald, Pedchenko, Vadim, Chetyrkin, Sergei, Bergmann, Carsten, Abrahamson, Dale, Cui, Zhao Wei, Delpire, Eric, Fervenza, Fernando C., Fidler, Aaron L., Fogo, Agnes B., Gaspert, Ariana, Grohmann, Maik, Gross, Oliver, Haddad, George, Harris, Raymond C., Kashtan, Clifford, Kitching, A. Richard, Lorenzen, Johan M., McAdoo, Stephen, Pusey, Charles D., Segelmark, Marten, Simmons, Alicia, Voziyan, Paul A., Wagner, Timo, Wüthrich, Rudolf P., Zhao, Ming-Hui, Boudko, Sergei P., Kistler, Andreas D., Hudson, Billy G.
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Biochemistry and Molecular Biology 2021
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8100070/
https://ncbi.nlm.nih.gov/pubmed/33774048
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jbc.2021.100590
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