Characterization of a novel disease-associated mutation within NPHS1 and its effects on nephrin phosphorylation and signaling

Mutations in the transmembrane protein nephrin (encoded by NPHS1) underlie nearly half of all cases of congenital nephrotic syndrome (CNS), which is caused by aberrations in the blood filtering function of glomerular podocytes. Nephrin directly contributes to the structure of the filtration barrier,...

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Veröffentlicht in:PLoS One
Hauptverfasser: Cooper, C. James, Dutta, Nikkita T., Martin, Claire E., Piscione, Tino D., Thorner, Paul S., Jones, Nina
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2018
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6136785/
https://ncbi.nlm.nih.gov/pubmed/30212551
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0203905
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