RNA FISH for detecting expanded repeats in human diseases
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- 作者：Martyna O. Urbanek ; Wlodzimierz J. Krzyzosiak ; wlodkrzy@ibch.poznan.pl" class="auth_mail" title="E-mail the corresponding author
- 关键词：DM ; myotonic dystrophy ; HD ; Huntington&rsquo ; s disease ; SCA ; spinocerebellar ataxia ; DRPLA ; dentatorubral-pallidoluysian atrophy ; HDL2 ; Huntington disease-like 2 ; ALS/FTD ; amyotrophic lateral sclerosis/frontotemporal dementia ; FXTAS ; fragile X-associated tremor/ataxia syndrome ; TREDs ; triplet repeat expansion diseases ; MBNL1 ; muscleblind-like 1 ; DMPK ; dystrophia myotonica protein kinase ; FISH ; fluorescence in situ hybridization ; IF ; immunofluorescence ; LNA ; locked nucleic acids ; PNA ; peptide nuc
- 刊名：Methods
- 出版年：2016
- 出版时间：1 April 2016
- 年：2016
- 卷：98
- 期：Complete
- 页码：115-123
- 全文大小：2282 K
文摘
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LNA probe targeting repeat expansions perform well in detecting CAG and CUG repeats.
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A single CAG-specific probe detects RNA foci in cellular models of polyQ diseases.
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RNA FISH images CAG repeats in fibroblasts, lymphoblasts, iPSCs and NSCs.
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RNA FISH/IF shows proteins co-localizing with nuclear RNA foci.
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smFISH detects mutant ATXN3 transcript with high resolution.