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Functional analysis of NPHS1 mutations in Japanese patients

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dc.contributor.authorMiyai, Takayuki
dc.contributor.authorAya, Kunihiko
dc.contributor.authorTakaiwa, Masanori
dc.contributor.authorYan, Kunimasa
dc.contributor.authorSado, Yoshikazu
dc.contributor.authorTanaka, Hiroyuki
dc.contributor.authorMorishima, Tsuneo
dc.date.accessioned2019-01-17T14:36:14Z
dc.date.available2019-01-17T14:36:14Z
dc.date.issued2014
dc.description.abstractBackground: Many mutations in the NPHS1 gene were detected among patients with congenital nephrotic syndrome. Functional analysis of those mutations was done with a stable-expression cell line. Nevertheless, establishing such a cell line is time-consuming. Methods and Results: We established an easier method using automatic counting software for functional analysis with transient-transfection cells rather than a stable-expression cell line. We demonstrated maltrafficking to the plasma membrane of abnormal nephrin for immunostaining on transient-expression cells by comparison without Triton X (detecting proteins on the cell membrane only) and with Triton X (detecting proteins both on the cell membrane and inside the cell cytoplasm). We obtained relevant results with data obtained previously using a stable-expression cell line. Furthermore, we conducted functional analysis of NPHS1 mutations in Japanese patients with congenital nephrotic syndrome using this simple method, which revealed that all pathogenic mutations impaired trafficking to the protein plasma membrane. Conclusions: Functional analysis using transient-expression cells with automatic counting software was useful to demonstrate maltrafficking to the plasma membrane of a protein. All pathogenic mutations detected in Japanese patients impaired trafficking to the protein plasma membrane.es
dc.formatapplication/pdfes
dc.format.extent6es
dc.identifier.citationHistology and Histopathology, vol. 29, nº 2 (2014)
dc.identifier.issn1699-5848
dc.identifier.issn0213-3911
dc.identifier.urihttp://hdl.handle.net/10201/66604
dc.languageenges
dc.publisherF. Hernández y Juan F. Madrid. Universidad de Murcia. Departamento de Biología Celular e Histologíaes
dc.rightsinfo:eu-repo/semantics/openAccesses
dc.subjectCongenital nephrotic syndromees
dc.subjectNephrines
dc.subject.otherCDU::5 - Ciencias puras y naturales::57 - Biología::576 - Biología celular y subcelular. Citologíaes
dc.titleFunctional analysis of NPHS1 mutations in Japanese patientses
dc.typeinfo:eu-repo/semantics/articlees
dspace.entity.typePublicationes
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Histology and histopathology Vol.29, nº 2 (2014)