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1	Funkční analýza mutací hPrp8 spojených s onemocněním retinitis pigmentosa. / Functional analysis of hPrp8 mutations linked to retinitis pigmentosa. Matějů, Daniel January 2013 (has links) hPrp8 is an essential pre-mRNA splicing factor. This highly conserved protein is a component of the U5 small ribonucleoprotein particle (U5 snRNP), which constitutes one of the building blocks of the spliceosome. hPrp8 acts as a key regulator of spliceosome activation and interacts directly with U5 snRNA and with the regions of pre-mRNA that are involved in the transesterification reactions during splicing. Mutations in hPrp8 have been shown to cause an autosomal dominant form of retinitis pigmentosa (RP), an inherited disease leading to progressive degeneration of retina. In this study, we analyzed the effects of the RP-associated mutations on the function of hPrp8. Using BAC recombineering, we created mutant variants of hPrp8-GFP construct and we generated stable cell lines expressing the recombinant proteins. The mutant proteins were expressed and localized to the nucleus. However, one of the missense mutations affected the localization and stability of hPrp8. Further experiments suggested that RP-associated mutations affect the ability of hPrp8 to interact with other components of the U5 snRNP and with pre-mRNA. We further studied the biogenesis of U5 snRNP. We depleted hPrp8 by siRNA to interfere with U5 snRNP assembly and we observed that the incompletely assembled U5 snRNPs accumulate in...
2	Struktur-Funtionsbeziehung in den spleißosomalen Proteinen des U4/U6•U5 tri-snRNP / Structure-functionrelationship of the Proteins within the U4/U6•U5 tri-snRNP Müllers, Nina 02 November 2006 (has links) No description available. 570 Biowissenschaften, Biologie Mathematics and Computer Science U4/U6•U5 tri-snRNP hSnu114p U5-200K hPrp8 Proteinexpression Coexpression von Domänen limitierte Proteolyse interagierender Kern des tri-snRNP U4/U6•U5 tri-snRNP hSnu114p U5-200K hPrp8 protein-expression co-expression of domains limited proteolysis interacting core of the tri-snRNP 42.99 Biologie: Sonstiges

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Funkční analýza mutací hPrp8 spojených s onemocněním retinitis pigmentosa. / Functional analysis of hPrp8 mutations linked to retinitis pigmentosa.

Struktur-Funtionsbeziehung in den spleißosomalen Proteinen des U4/U6•U5 tri-snRNP / Structure-functionrelationship of the Proteins within the U4/U6•U5 tri-snRNP