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dc.contributor.authorFratta, Pietro
dc.contributor.authorMizielinska, Sarah
dc.contributor.authorNicoll, Andrew J
dc.contributor.authorZloh, Mire
dc.contributor.authorFisher, Elizabeth M. C.
dc.contributor.authorParkinson, Gary
dc.contributor.authorIsaacs, Adrian M.
dc.identifier.citationFratta , P , Mizielinska , S , Nicoll , A J , Zloh , M , Fisher , E M C , Parkinson , G & Isaacs , A M 2012 , ' C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes ' , Scientific Reports , vol. 2 , 1016 .
dc.identifier.otherPURE: 1455856
dc.identifier.otherPURE UUID: ea0f4be3-bfa1-4258-b37c-0f2c3ef81933
dc.identifier.otherPubMed: 23264878
dc.identifier.otherScopus: 84871801926
dc.descriptionavailable on open access on journal website
dc.description.abstractLarge expansions of a non-coding GGGGCC-repeat in the first intron of the C9orf72 gene are a common cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). G-rich sequences have a propensity for forming highly stable quadruplex structures in both RNA and DNA termed G-quadruplexes. G-quadruplexes have been shown to be involved in a range of processes including telomere stability and RNA transcription, splicing, translation and transport. Here we show using NMR and CD spectroscopy that the C9orf72 hexanucleotide expansion can form a stable G-quadruplex, which has profound implications for disease mechanism in ALS and FTD.en
dc.relation.ispartofScientific Reports
dc.titleC9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexesen
dc.contributor.institutionSchool of Life and Medical Sciences
dc.contributor.institutionHealth & Human Sciences Research Institute
dc.contributor.institutionDepartment of Pharmacy
dc.contributor.institutionMedicinal and Analytical Chemistry
dc.description.statusPeer reviewed
dc.relation.schoolSchool of Life and Medical Sciences
rioxxterms.typeJournal Article/Review

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