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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. Among authors: wheeler vc. 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. Among authors: wheeler vc. 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
Mapping SCA1 regional vulnerabilities reveals neural and skeletal muscle contributions to disease.
Duvick L, Southern WM, Benzow KA, Burch ZN, Handler HP, Mitchell JS, Kuivinen H, Gadiparthi U, Yang P, Soles A, Sheeler CA, Rainwater O, Serres S, Lind EB, Nichols-Meade T, You Y, O'Callaghan B, Zoghbi HY, Cvetanovic M, Wheeler VC, Ervasti JM, Koob MD, Orr HT. Duvick L, et al. Among authors: wheeler vc. JCI Insight. 2024 Mar 21;9(9):e176057. doi: 10.1172/jci.insight.176057. JCI Insight. 2024. PMID: 38512434 Free article.
Modification of Huntington's disease by short tandem repeats.
Hong EP, Ramos EM, Aziz NA, Massey TH, McAllister B, Lobanov S, Jones L, Holmans P, Kwak S, Orth M, Ciosi M, Lomeikaite V, Monckton DG, Long JD, Lucente D, Wheeler VC, Gillis T, MacDonald ME, Sequeiros J, Gusella JF, Lee JM. Hong EP, et al. Among authors: wheeler vc. Brain Commun. 2024 Jan 23;6(2):fcae016. doi: 10.1093/braincomms/fcae016. eCollection 2024. Brain Commun. 2024. PMID: 38449714 Free PMC article.
Somatic CAG Repeat Stability in a Transgenic Sheep Model of Huntington's Disease.
Handley RR, Reid SJ, Burch Z, Jacobsen JC, Gillis T, Correia K, Rudiger SR, McLaughlin CJ, Bawden CS, MacDonald ME, Wheeler VC, Snell RG. Handley RR, et al. Among authors: wheeler vc. J Huntingtons Dis. 2024;13(1):33-40. doi: 10.3233/JHD-231516. J Huntingtons Dis. 2024. PMID: 38393920 Free PMC article.
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. Among authors: wheeler vc. 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. Among authors: wheeler vc. bioRxiv [Preprint]. 2023 Jul 27:2023.07.25.550489. doi: 10.1101/2023.07.25.550489. bioRxiv. 2023. PMID: 37547003 Free PMC article. Updated. 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. Among authors: wheeler vc. bioRxiv [Preprint]. 2023 Jun 30:2023.02.08.527710. doi: 10.1101/2023.02.08.527710. bioRxiv. 2023. PMID: 36798410 Free PMC article. Preprint.
Correction to: Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat.
Campion LN, Mejia Maza A, Yadav R, Penney EB, Murcar MG, Correia K, Gillis T, Fernandez-Cerado C, Velasco-Andrada MS, Legarda GP, Ganza-Bautista NG, Lagarde JBB, Acuña PJ, Multhaupt-Buell T, Aldykiewicz G, Supnet ML, De Guzman JK, Go C, Sharma N, Munoz EL, Ang MC, Diesta CCE, Bragg DC, Ozelius LJ, Wheeler VC. Campion LN, et al. Among authors: wheeler vc. Acta Neuropathol Commun. 2022 Apr 25;10(1):62. doi: 10.1186/s40478-022-01367-y. Acta Neuropathol Commun. 2022. PMID: 35468867 Free PMC article. No abstract available.
76 results