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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Detalles Bibliográficos
Autores principales: Cooper, C. James, Dutta, Nikkita T., Martin, Claire E., Piscione, Tino D., Thorner, Paul S., Jones, Nina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6136785/
https://www.ncbi.nlm.nih.gov/pubmed/30212551
http://dx.doi.org/10.1371/journal.pone.0203905

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6136785/
https://www.ncbi.nlm.nih.gov/pubmed/30212551
http://dx.doi.org/10.1371/journal.pone.0203905

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