دورية أكاديمية
Modeling and analysis of repeat RNA toxicity in Drosophila.
| العنوان: | Modeling and analysis of repeat RNA toxicity in Drosophila. |
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| المؤلفون: | Samaraweera SE; ARC Special Research Centre for the Molecular Genetics of Development and Discipline of Genetics, School of Molecular and Biomedical Sciences, The University of Adelaide, Adelaide, SA, Australia., O'Keefe LV, van Eyk CL, Lawlor KT, Humphreys DT, Suter CM, Richards RI |
| المصدر: | Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2013; Vol. 1017, pp. 173-92. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Humana Press Country of Publication: United States NLM ID: 9214969 Publication Model: Print Cited Medium: Internet ISSN: 1940-6029 (Electronic) Linking ISSN: 10643745 NLM ISO Abbreviation: Methods Mol Biol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Totowa, NJ : Humana Press Original Publication: Clifton, N.J. : Humana Press, |
| مواضيع طبية MeSH: | Cytotoxins*/biosynthesis , Cytotoxins*/genetics , Heredodegenerative Disorders, Nervous System*/genetics , Heredodegenerative Disorders, Nervous System*/metabolism , RNA*/biosynthesis , RNA*/genetics , Tandem Repeat Sequences*, Animals ; Disease Models, Animal ; Drosophila melanogaster ; Humans |
| مستخلص: | Expansion of repeat sequences beyond a pathogenic threshold is the cause of a series of dominantly inherited neurodegenerative diseases that includes Huntington's disease, several spinocerebellar ataxias, and myotonic dystrophy types 1 and 2. Expansion of repeat sequences occurring in coding regions of various genes frequently produces an expanded polyglutamine tract that is thought to result in a toxic protein. However, in a number of diseases that present with similar clinical symptoms, the expansions occur in untranslated regions of the gene that cannot encode toxic peptide products. As expanded repeat-containing RNA is common to both translated and untranslated repeat expansion diseases, this repeat RNA is hypothesized as a potential common toxic agent.We have established Drosophila models for expanded repeat diseases in order to investigate the role of multiple candidate toxic agents and the potential molecular pathways that lead to pathogenesis. In this chapter we describe methods to identify candidate pathogenic pathways and their constituent steps. This includes establishing novel phenotypes using Drosophila and developing methods for using this system to screen for possible modifiers of pathology. Additionally, we describe a method for quantifying progressive neurodegeneration using a motor functional assay as well as small RNA profiling techniques, which are useful in identifying RNA intermediates of pathogenesis that can then be used to validate potential pathogenic pathways in humans. |
| المشرفين على المادة: | 0 (Cytotoxins) 63231-63-0 (RNA) |
| تواريخ الأحداث: | Date Created: 20130531 Date Completed: 20131231 Latest Revision: 20130530 |
| رمز التحديث: | 20240829 |
| DOI: | 10.1007/978-1-62703-438-8_13 |
| PMID: | 23719916 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1940-6029 |
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| DOI: | 10.1007/978-1-62703-438-8_13 |