{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T23:29:16Z","timestamp":1787009356060,"version":"build-2736575974"},"reference-count":58,"publisher":"Oxford University Press (OUP)","issue":"13","license":[{"start":{"date-parts":[[2024,6,11]],"date-time":"2024-06-11T00:00:00Z","timestamp":1718064000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Scientific Foundation of China","award":["32071188"],"award-info":[{"award-number":["32071188"]}]},{"name":"National Scientific Foundation of China","award":["32301023"],"award-info":[{"award-number":["32301023"]}]},{"name":"Research Grants Council of the Hong Kong Special Administrative Region","award":["16101120"],"award-info":[{"award-number":["16101120"]}]},{"name":"Research Grants Council of the Hong Kong Special Administrative Region","award":["161011121"],"award-info":[{"award-number":["161011121"]}]},{"name":"Research Grants Council of the Hong Kong Special Administrative Region","award":["AoE\/M-403-16"],"award-info":[{"award-number":["AoE\/M-403-16"]}]},{"name":"Research Grants Council of the Hong Kong Special Administrative Region","award":["AoE\/M-401\/20"],"award-info":[{"award-number":["AoE\/M-401\/20"]}]},{"DOI":"10.13039\/501100005950","name":"Hong Kong University of Science and Technology","doi-asserted-by":"publisher","award":["3502Z20214001"],"award-info":[{"award-number":["3502Z20214001"]}],"id":[{"id":"10.13039\/501100005950","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100021171","name":"Guangdong Basic and Applied Basic Research Foundation","doi-asserted-by":"publisher","award":["2021A1515220104"],"award-info":[{"award-number":["2021A1515220104"]}],"id":[{"id":"10.13039\/501100021171","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,7,22]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The abnormal GGGGCC hexanucleotide repeat expansions (HREs) in C9orf72 cause the fatal neurodegenerative diseases including amyotrophic lateral sclerosis and frontotemporal dementia. The transcribed RNA HREs, short for r(G4C2)n, can form toxic RNA foci which sequestrate RNA binding proteins and impair RNA processing, ultimately leading to neurodegeneration. Here, we determined the crystal structure of r(G4C2)2, which folds into a parallel tetrameric G-quadruplex composed of two four-layer dimeric G-quadruplex via 5\u2032-to-5\u2032 stacking in coordination with a K+ ion. Notably, the two C bases locate at 3\u2032- end stack on the outer G-tetrad with the assistance of two additional K+ ions. The high-resolution structure reported here lays a foundation in understanding the mechanism of neurological toxicity of RNA HREs. Furthermore, the atomic details provide a structural basis for the development of potential therapeutic agents against the fatal neurodegenerative diseases ALS\/FTD.<\/jats:p>","DOI":"10.1093\/nar\/gkae473","type":"journal-article","created":{"date-parts":[[2024,5,29]],"date-time":"2024-05-29T17:48:29Z","timestamp":1717004909000},"page":"7961-7970","source":"Crossref","is-referenced-by-count":11,"title":["Crystal structure of a tetrameric RNA G-quadruplex formed by hexanucleotide repeat expansions of C9orf72 in ALS\/FTD"],"prefix":"10.1093","volume":"52","author":[{"given":"Yanyan","family":"Geng","sequence":"first","affiliation":[{"name":"Clinical Research Institute of the First Affiliated Hospital of Xiamen University, Fujian Key Laboratory of Brain Tumors Diagnosis and Precision Treatment, Xiamen Key Laboratory of Brain Center, the First Affiliated Hospital of Xiamen University, School of Medicine, Xiamen University , Xiamen , Fujian , China"},{"name":"Institute for Advanced Study and State Key Laboratory of Molecular Neuroscience, Division of Life Science, The Hong Kong University of Science and Technology , Clear Water Bay, Kowloon , Hong Kong SAR, China"},{"name":"Department of Neurosurgery and Department of Neuroscience, Fujian Key Laboratory of Brain Tumors Diagnosis and Precision Treatment, Xiamen Key Laboratory of Brain Center, the First Affiliated Hospital of Xiamen University, School of Medicine, Xiamen University , Xiamen , Fujian , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Changdong","family":"Liu","sequence":"additional","affiliation":[{"name":"Institute for Advanced Study and State Key Laboratory of Molecular Neuroscience, Division of Life Science, The Hong Kong University of Science and Technology , Clear Water Bay, Kowloon , Hong Kong SAR, China"},{"name":"HKUST Shenzhen Research Institute, Hi-Tech Park , Nanshan, Shenzhen , Guangdong , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naining","family":"Xu","sequence":"additional","affiliation":[{"name":"Institute for Advanced Study and State Key Laboratory of Molecular Neuroscience, Division of Life Science, The Hong Kong University of Science and Technology , Clear Water Bay, Kowloon , Hong Kong SAR, China"},{"name":"HKUST Shenzhen Research Institute, Hi-Tech Park , Nanshan, Shenzhen , Guangdong , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica Ching","family":"Suen","sequence":"additional","affiliation":[{"name":"Institute for Advanced Study and State Key Laboratory of Molecular Neuroscience, Division of Life Science, The Hong Kong University of Science and Technology , Clear Water Bay, Kowloon , Hong Kong SAR, China"},{"name":"HKUST Shenzhen Research Institute, Hi-Tech Park , Nanshan, Shenzhen , Guangdong , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haitao","family":"Miao","sequence":"additional","affiliation":[{"name":"Institute for Advanced Study and State Key Laboratory of Molecular Neuroscience, Division of Life Science, The Hong Kong University of Science and Technology , Clear Water Bay, Kowloon , Hong Kong SAR, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanyuan","family":"Xie","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery and Department of Neuroscience, Fujian Key Laboratory of Brain Tumors Diagnosis and Precision Treatment, Xiamen Key Laboratory of Brain Center, the First Affiliated Hospital of Xiamen University, School of Medicine, Xiamen University , Xiamen , Fujian , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bingchang","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery and Department of Neuroscience, Fujian Key Laboratory of Brain Tumors Diagnosis and Precision Treatment, Xiamen Key Laboratory of Brain Center, the First Affiliated Hospital of Xiamen University, School of Medicine, Xiamen University , Xiamen , Fujian , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueqin","family":"Chen","sequence":"additional","affiliation":[{"name":"Clinical Research Institute of the First Affiliated Hospital of Xiamen University, Fujian Key Laboratory of Brain Tumors Diagnosis and Precision Treatment, Xiamen Key Laboratory of Brain Center, the First Affiliated Hospital of Xiamen University, School of Medicine, Xiamen University , Xiamen , Fujian , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanjian","family":"Song","sequence":"additional","affiliation":[{"name":"Jiangsu Key Laboratory of Brain Disease Bioinformation, Department of Genetics, Xuzhou Medical University , Xuzhou , Jiangsu , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhanxiang","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery and Department of Neuroscience, Fujian Key Laboratory of Brain Tumors Diagnosis and Precision Treatment, Xiamen Key Laboratory of Brain Center, the First Affiliated Hospital of Xiamen University, School of Medicine, Xiamen University , Xiamen , Fujian , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qixu","family":"Cai","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Vaccines for Infectious Diseases, School of Public Health, Xiamen University , Xiamen , Fujian , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3802-3446","authenticated-orcid":false,"given":"Guang","family":"Zhu","sequence":"additional","affiliation":[{"name":"Institute for Advanced Study and State Key Laboratory of Molecular Neuroscience, Division of Life Science, The Hong Kong University of Science and Technology , Clear Water Bay, Kowloon , Hong Kong SAR, China"},{"name":"HKUST Shenzhen Research Institute, Hi-Tech Park , Nanshan, Shenzhen , Guangdong , China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,6,11]]},"reference":[{"key":"2024072200013292000_B1","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1016\/j.jocn.2009.03.005","article-title":"Frontotemporal dementia and motor neurone disease: overlapping clinic-pathological disorders","volume":"16","author":"Lillo","year":"2009","journal-title":"J. Clin. Neurosci."},{"key":"2024072200013292000_B2","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.neulet.2016.09.007","article-title":"Pathogenic determinants and mechanisms of ALS\/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene","volume":"636","author":"Wen","year":"2017","journal-title":"Neurosci. Lett."},{"key":"2024072200013292000_B3","doi-asserted-by":"crossref","first-page":"942","DOI":"10.1016\/S0140-6736(10)61156-7","article-title":"Amyotrophic lateral sclerosis","volume":"377","author":"Kiernan","year":"2011","journal-title":"Lancet"},{"key":"2024072200013292000_B4","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1038\/nrneurol.2012.117","article-title":"Advances in understanding the molecular basis of frontotemporal dementia","volume":"8","author":"Rademakers","year":"2012","journal-title":"Nat. Rev. Neurol."},{"key":"2024072200013292000_B5","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/S1474-4422(12)70043-1","article-title":"Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study","volume":"11","author":"Majounie","year":"2012","journal-title":"Lancet Neurol."},{"key":"2024072200013292000_B6","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.neuron.2011.09.010","article-title":"A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD","volume":"72","author":"Renton","year":"2011","journal-title":"Neuron"},{"key":"2024072200013292000_B7","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.neuron.2011.09.011","article-title":"Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS","volume":"72","author":"DeJesus-Hernandez","year":"2011","journal-title":"Neuron"},{"key":"2024072200013292000_B8","doi-asserted-by":"crossref","first-page":"9860","DOI":"10.1074\/jbc.C113.452532","article-title":"The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures","volume":"288","author":"Reddy","year":"2013","journal-title":"J. Biol. Chem."},{"key":"2024072200013292000_B9","doi-asserted-by":"crossref","first-page":"1016","DOI":"10.1038\/srep01016","article-title":"C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes","volume":"2","author":"Fratta","year":"2012","journal-title":"Sci. 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Mol. Cell Biol."},{"key":"2024072200013292000_B20","doi-asserted-by":"crossref","first-page":"1992","DOI":"10.1093\/nar\/24.11.1992","article-title":"Stability of intrastrand hairpin structures formed by the CAG\/CTG class of DNA triplet repeats associated with neurological diseases","volume":"24","author":"Petruska","year":"1996","journal-title":"Nucleic Acids Res."},{"key":"2024072200013292000_B21","doi-asserted-by":"crossref","first-page":"4816","DOI":"10.1093\/nar\/gkab164","article-title":"G-quadruplexes as pathogenic drivers in neurodegenerative disorders","volume":"49","author":"Wang","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"2024072200013292000_B22","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1038\/nature14973","article-title":"The C9orf72 repeat expansion disrupts nucleocytoplasmic transport","volume":"525","author":"Zhang","year":"2015","journal-title":"Nature"},{"key":"2024072200013292000_B23","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1016\/j.celrep.2013.10.049","article-title":"Hexanucleotide repeats in ALS\/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic","volume":"5","author":"Lee","year":"2013","journal-title":"Cell Rep."},{"key":"2024072200013292000_B24","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1007\/s00401-020-02214-x","article-title":"C9orf72 loss-of-function: a trivial, stand-alone or additive mechanism in C9 ALS\/FTD?","volume":"140","author":"Braems","year":"2020","journal-title":"Acta Neuropathol."},{"key":"2024072200013292000_B25","doi-asserted-by":"crossref","first-page":"8419","DOI":"10.1093\/nar\/gkab609","article-title":"DNA G-quadruplex structures: more than simple roadblocks to transcription?","volume":"49","author":"Robinson","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"2024072200013292000_B26","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1038\/nrn.2016.38","article-title":"The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease","volume":"17","author":"Haeusler","year":"2016","journal-title":"Nat. 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Res."},{"key":"2024072200013292000_B29","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1016\/j.neuron.2013.02.004","article-title":"Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD\/ALS","volume":"77","author":"Ash","year":"2013","journal-title":"Neuron"},{"key":"2024072200013292000_B30","doi-asserted-by":"crossref","first-page":"E1111","DOI":"10.1073\/pnas.1620293114","article-title":"Toxic PR(n) poly-dipeptides encoded by the C9orf72 repeat expansion block nuclear import and export","volume":"114","author":"Shi","year":"2017","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"2024072200013292000_B31","doi-asserted-by":"crossref","first-page":"7368","DOI":"10.1021\/jacs.1c00131","article-title":"A helicase unwinds hexanucleotide repeat RNA G-quadruplexes and facilitates repeat-associated non-AUG translation","volume":"143","author":"Liu","year":"2021","journal-title":"J. Am. Chem. 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