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Year Number of Results
2006 1
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2008 1
2009 6
2010 2
2011 3
2012 3
2013 3
2014 1
2016 1
2017 4
2018 3
2019 2
2020 4
2021 5
2022 2
2023 4
2024 2

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43 results

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Page 1
Splice modulators target PMS1 to reduce somatic expansion of the Huntington's disease-associated CAG repeat.
McLean ZL, Gao D, Correia K, Roy JCL, Shibata S, Farnum IN, Valdepenas-Mellor Z, Kovalenko M, Rapuru M, Morini E, Ruliera J, Gillis T, Lucente D, Kleinstiver BP, Lee JM, MacDonald ME, Wheeler VC, Mouro Pinto R, Gusella JF. McLean ZL, et al. Nat Commun. 2024 Apr 12;15(1):3182. doi: 10.1038/s41467-024-47485-0. Nat Commun. 2024. PMID: 38609352 Free PMC article.
Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's disease.
Kim KH, Hong EP, Lee Y, McLean ZL, Elezi E, Lee R, Kwak S, McAllister B, Massey TH, Lobanov S, Holmans P, Orth M, Ciosi M, Monckton DG, Long JD, Lucente D, Wheeler VC, MacDonald ME, Gusella JF, Lee JM. Kim KH, et al. Proc Natl Acad Sci U S A. 2024 Apr 16;121(16):e2322924121. doi: 10.1073/pnas.2322924121. Epub 2024 Apr 12. Proc Natl Acad Sci U S A. 2024. PMID: 38607933
CAG repeat expansion in the Huntington's disease gene shapes linear and circular RNAs biogenesis.
Ayyildiz D, Bergonzoni G, Monziani A, Tripathi T, Döring J, Kerschbamer E, Di Leva F, Pennati E, Donini L, Kovalenko M, Zasso J, Conti L, Wheeler VC, Dieterich C, Piazza S, Dassi E, Biagioli M. Ayyildiz D, et al. PLoS Genet. 2023 Oct 13;19(10):e1010988. doi: 10.1371/journal.pgen.1010988. eCollection 2023 Oct. PLoS Genet. 2023. PMID: 37831730 Free PMC article.
PMS1 as a target for splice modulation to prevent somatic CAG repeat expansion in Huntington's disease.
McLean ZL, Gao D, Correia K, Roy JCL, Shibata S, Farnum IN, Valdepenas-Mellor Z, Rapuru M, Morini E, Ruliera J, Gillis T, Lucente D, Kleinstiver BP, Lee JM, MacDonald ME, Wheeler VC, Pinto RM, Gusella JF. McLean ZL, et al. bioRxiv [Preprint]. 2023 Jul 27:2023.07.25.550489. doi: 10.1101/2023.07.25.550489. bioRxiv. 2023. PMID: 37547003 Free PMC article. Preprint.
Delineating regional vulnerability in the neurodegenerative disease SCA1 using a conditional mutant ATXN1 mouse.
Duvick L, Southern WM, Benzow K, Burch ZN, Handler HP, Mitchell JS, Kuivinen H, Gadiparthi UK, Yang P, Soles A, Scheeler C, Rainwater O, Serres S, Lind E, Nichols-Meade T, O'Callaghan B, Zoghbi HY, Cvetanovic M, Wheeler VC, Ervasti JM, Koob MD, Orr HT. Duvick L, et al. bioRxiv [Preprint]. 2023 Jun 30:2023.02.08.527710. doi: 10.1101/2023.02.08.527710. bioRxiv. 2023. PMID: 36798410 Free PMC article. Preprint.
Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset.
McAllister B, Donaldson J, Binda CS, Powell S, Chughtai U, Edwards G, Stone J, Lobanov S, Elliston L, Schuhmacher LN, Rees E, Menzies G, Ciosi M, Maxwell A, Chao MJ, Hong EP, Lucente D, Wheeler V, Lee JM, MacDonald ME, Long JD, Aylward EH, Landwehrmeyer GB, Rosser AE; REGISTRY Investigators of the European Huntington’s disease network; Paulsen JS; PREDICT-HD Investigators of the Huntington Study Group; Williams NM, Gusella JF, Monckton DG, Allen ND, Holmans P, Jones L, Massey TH. McAllister B, et al. Nat Neurosci. 2022 Apr;25(4):446-457. doi: 10.1038/s41593-022-01033-5. Epub 2022 Apr 4. Nat Neurosci. 2022. PMID: 35379994 Free PMC article.
Genetic modifiers of Huntington disease differentially influence motor and cognitive domains.
Lee JM, Huang Y, Orth M, Gillis T, Siciliano J, Hong E, Mysore JS, Lucente D, Wheeler VC, Seong IS, McLean ZL, Mills JA, McAllister B, Lobanov SV, Massey TH, Ciosi M, Landwehrmeyer GB, Paulsen JS, Dorsey ER, Shoulson I, Sampaio C, Monckton DG, Kwak S, Holmans P, Jones L, MacDonald ME, Long JD, Gusella JF. Lee JM, et al. Am J Hum Genet. 2022 May 5;109(5):885-899. doi: 10.1016/j.ajhg.2022.03.004. Epub 2022 Mar 23. Am J Hum Genet. 2022. PMID: 35325614 Free PMC article.
43 results