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Disease-Causing Mutations in BEST1 Gene Are Associated with Altered Sorting of Bestrophin-1 Protein

Opened Access Disease-Causing Mutations in BEST1 Gene Are Associated with Altered Sorting of Bestrophin-1 Protein

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Autor: Doumanov, Jordan A.
Zeitz, Christina
Domínguez Giménez, Paloma
Krishna, Abhay
Bellido Díaz, María Luz
Fecha: 2013
Publicado en: International Journal of Molecular Sciences, 14, 15121-15140.
Tipo de documento: Artículo
Resumen: Mutations in BEST1 gene, encoding the bestrophin-1 (Best1) protein are associated with macular dystrophies. Best1 is predominantly expressed in the retinal pigment epithelium (RPE), and is inserted in its basolateral membrane. We investigated the cellular localization in polarized MDCKII cells of disease-associated Best1 mutant proteins to study specific sorting motifs of Best1. Real-time PCR and western blots for endogenous expression of BEST1 in MDCK cells were performed. Best1 mutant constructs were generated using site-directed mutagenesis and transfected in MDCK cells. For protein sorting, confocal microscopy studies, biotinylation assays and statistical methods for quantification of mislocalization were used. Analysis of endogenous expression of BEST1 in MDCK cells revealed the presence of BEST1 transcript but no protein. Confocal microscopy and quantitative analyses indicate that transfected normal human Best1 displays a basolateral localization in MDCK cells, while cell sortin...
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Cita: Doumanov, J.A., Zeitz, ., Domínguez Giménez, P., Krishna, A. y Bellido Díaz, M.L. (2013). Disease-Causing Mutations in BEST1 Gene Are Associated with Altered Sorting of Bestrophin-1 Protein. International Journal of Molecular Sciences, 14, 15121-15140.
Tamaño: 3.922Mb
Formato: PDF

URI: http://hdl.handle.net/11441/63978

DOI: 10.3390/ijms140715121

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