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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,...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2018
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| Materias: | |
| 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 |