A Disease-causing Mutation Illuminates the Protein Membrane Topology of the Kidney-expressed Prohibitin Homology (PHB) Domain Protein Podocin

Mutations in the NPHS2 gene are a major cause of steroid-resistant nephrotic syndrome, a severe human kidney disorder. The NPHS2 gene product podocin is a key component of the slit diaphragm cell junction at the kidney filtration barrier and part of a multiprotein-lipid supercomplex. A similar compl...

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Главные авторы: Schurek, Eva-Maria, Völker, Linus A., Tax, Judit, Lamkemeyer, Tobias, Rinschen, Markus M., Ungrue, Denise, Kratz, John E., Sirianant, Lalida, Kunzelmann, Karl, Chalfie, Martin, Schermer, Bernhard, Benzing, Thomas, Höhne, Martin
Формат: Artigo
Язык:Inglês
Опубликовано: American Society for Biochemistry and Molecular Biology 2014
Предметы:
Molecular Bases of Disease
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4036264/
https://ncbi.nlm.nih.gov/pubmed/24596097
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M113.521773
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