Matches in SemOpenAlex for { <https://semopenalex.org/work/W3155806112> ?p ?o ?g. }
- W3155806112 abstract "Abstract Transcribed nucleotide repeat expansions form detectable RNA foci in patient cells that contribute to disease pathogenesis. The most widely used method for detecting RNA foci, fluorescence in situ hybridization (FISH), is powerful but can suffer from issues related to signal above background. Here we developed a repeat-specific form of hybridization chain reaction (R-HCR) as an alternative method for detection of repeat RNA foci in two neurodegenerative disorders: C9orf72 associated ALS and frontotemporal dementia (C9 ALS/FTD) and Fragile X-associated tremor/ataxia syndrome. R-HCR to both G 4 C 2 and CGG repeats exhibited comparable specificity but > 40 × sensitivity compared to FISH, with better detection of both nuclear and cytoplasmic foci in human C9 ALS/FTD fibroblasts, patient iPSC derived neurons, and patient brain samples. Using R-HCR, we observed that integrated stress response (ISR) activation significantly increased the number of endogenous G 4 C 2 repeat RNA foci and triggered their selective nuclear accumulation without evidence of stress granule co-localization in patient fibroblasts and patient derived neurons. These data suggest that R-HCR can be a useful tool for tracking the behavior of repeat expansion mRNA in C9 ALS/FTD and other repeat expansion disorders." @default.
- W3155806112 created "2021-04-26" @default.
- W3155806112 creator A5001583322 @default.
- W3155806112 creator A5008856745 @default.
- W3155806112 creator A5031767581 @default.
- W3155806112 creator A5050281691 @default.
- W3155806112 creator A5069883153 @default.
- W3155806112 creator A5076382619 @default.
- W3155806112 date "2021-04-23" @default.
- W3155806112 modified "2023-10-16" @default.
- W3155806112 title "Enhanced detection of expanded repeat mRNA foci with hybridization chain reaction" @default.
- W3155806112 cites W1797572428 @default.
- W3155806112 cites W1974961961 @default.
- W3155806112 cites W1980894900 @default.
- W3155806112 cites W1985501728 @default.
- W3155806112 cites W1988498459 @default.
- W3155806112 cites W1996425563 @default.
- W3155806112 cites W2008575045 @default.
- W3155806112 cites W2013029120 @default.
- W3155806112 cites W2044375974 @default.
- W3155806112 cites W2045151039 @default.
- W3155806112 cites W2057203758 @default.
- W3155806112 cites W2058543711 @default.
- W3155806112 cites W2065219073 @default.
- W3155806112 cites W2065884484 @default.
- W3155806112 cites W2066649475 @default.
- W3155806112 cites W2068477500 @default.
- W3155806112 cites W2073783949 @default.
- W3155806112 cites W2081280332 @default.
- W3155806112 cites W2081748748 @default.
- W3155806112 cites W2092594273 @default.
- W3155806112 cites W2093662126 @default.
- W3155806112 cites W2099254963 @default.
- W3155806112 cites W2101692941 @default.
- W3155806112 cites W2101776417 @default.
- W3155806112 cites W2108570063 @default.
- W3155806112 cites W2113333419 @default.
- W3155806112 cites W2113918626 @default.
- W3155806112 cites W2119679922 @default.
- W3155806112 cites W2123193865 @default.
- W3155806112 cites W2125159715 @default.
- W3155806112 cites W2127553600 @default.
- W3155806112 cites W2137505881 @default.
- W3155806112 cites W2140043547 @default.
- W3155806112 cites W2140188816 @default.
- W3155806112 cites W2143069387 @default.
- W3155806112 cites W2145439831 @default.
- W3155806112 cites W2145626860 @default.
- W3155806112 cites W2150523249 @default.
- W3155806112 cites W2151639461 @default.
- W3155806112 cites W2152205230 @default.
- W3155806112 cites W2154945114 @default.
- W3155806112 cites W2158047249 @default.
- W3155806112 cites W2159354359 @default.
- W3155806112 cites W2164028542 @default.
- W3155806112 cites W2171268732 @default.
- W3155806112 cites W2174732643 @default.
- W3155806112 cites W2236109444 @default.
- W3155806112 cites W2259023643 @default.
- W3155806112 cites W2299130105 @default.
- W3155806112 cites W2319517406 @default.
- W3155806112 cites W2467652252 @default.
- W3155806112 cites W2491614679 @default.
- W3155806112 cites W2520605819 @default.
- W3155806112 cites W2582335358 @default.
- W3155806112 cites W2607454528 @default.
- W3155806112 cites W2615294801 @default.
- W3155806112 cites W2617594926 @default.
- W3155806112 cites W2773167564 @default.
- W3155806112 cites W2777012891 @default.
- W3155806112 cites W2780438117 @default.
- W3155806112 cites W2782203058 @default.
- W3155806112 cites W2796205057 @default.
- W3155806112 cites W2803476128 @default.
- W3155806112 cites W2803819386 @default.
- W3155806112 cites W2890225178 @default.
- W3155806112 cites W2891861470 @default.
- W3155806112 cites W2908795173 @default.
- W3155806112 cites W2912382543 @default.
- W3155806112 cites W2921912860 @default.
- W3155806112 cites W2936853956 @default.
- W3155806112 cites W2949082553 @default.
- W3155806112 cites W2949193645 @default.
- W3155806112 cites W2950612020 @default.
- W3155806112 cites W2950910720 @default.
- W3155806112 cites W2951723449 @default.
- W3155806112 cites W2956385297 @default.
- W3155806112 cites W2982554888 @default.
- W3155806112 cites W2982599786 @default.
- W3155806112 cites W2987280116 @default.
- W3155806112 cites W2987949299 @default.
- W3155806112 cites W3004139033 @default.
- W3155806112 cites W3006072134 @default.
- W3155806112 cites W3012327042 @default.
- W3155806112 cites W3041849832 @default.
- W3155806112 cites W3102990719 @default.
- W3155806112 cites W3112951837 @default.
- W3155806112 doi "https://doi.org/10.1186/s40478-021-01169-8" @default.
- W3155806112 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8063431" @default.
- W3155806112 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33892814" @default.