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Divergent single cell transcriptome and epigenome alterations in ALS and FTD patients with C9orf72 mutation.
Nat Commun. 2023 Sep 15;14(1):5714. doi: 10.1038/s41467-023-41033-y.
Nat Commun. 2023.
PMID: 37714849
Free PMC article.
Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood.
Belzil VV, Bauer PO, Prudencio M, Gendron TF, Stetler CT, Yan IK, Pregent L, Daughrity L, Baker MC, Rademakers R, Boylan K, Patel TC, Dickson DW, Petrucelli L.
Belzil VV, et al.
Acta Neuropathol. 2013 Dec;126(6):895-905. doi: 10.1007/s00401-013-1199-1. Epub 2013 Oct 29.
Acta Neuropathol. 2013.
PMID: 24166615
Free PMC article.
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Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS.
Prudencio M, Belzil VV, Batra R, Ross CA, Gendron TF, Pregent LJ, Murray ME, Overstreet KK, Piazza-Johnston AE, Desaro P, Bieniek KF, DeTure M, Lee WC, Biendarra SM, Davis MD, Baker MC, Perkerson RB, van Blitterswijk M, Stetler CT, Rademakers R, Link CD, Dickson DW, Boylan KB, Li H, Petrucelli L.
Prudencio M, et al. Among authors: pregent lj.
Nat Neurosci. 2015 Aug;18(8):1175-82. doi: 10.1038/nn.4065. Epub 2015 Jul 20.
Nat Neurosci. 2015.
PMID: 26192745
Free PMC article.
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Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease.
Ebbert MTW, Ross CA, Pregent LJ, Lank RJ, Zhang C, Katzman RB, Jansen-West K, Song Y, da Rocha EL, Palmucci C, Desaro P, Robertson AE, Caputo AM, Dickson DW, Boylan KB, Rademakers R, Ordog T, Li H, Belzil VV.
Ebbert MTW, et al. Among authors: pregent lj.
Acta Neuropathol. 2017 Nov;134(5):715-728. doi: 10.1007/s00401-017-1760-4. Epub 2017 Aug 14.
Acta Neuropathol. 2017.
PMID: 28808785
Free PMC article.
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Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts.
Kramer NJ, Carlomagno Y, Zhang YJ, Almeida S, Cook CN, Gendron TF, Prudencio M, Van Blitterswijk M, Belzil V, Couthouis J, Paul JW 3rd, Goodman LD, Daughrity L, Chew J, Garrett A, Pregent L, Jansen-West K, Tabassian LJ, Rademakers R, Boylan K, Graff-Radford NR, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Boeve BF, Deng N, Feng Y, Cheng TH, Dickson DW, Cohen SN, Bonini NM, Link CD, Gao FB, Petrucelli L, Gitler AD.
Kramer NJ, et al. Among authors: pregent l.
Science. 2016 Aug 12;353(6300):708-12. doi: 10.1126/science.aaf7791.
Science. 2016.
PMID: 27516603
Free PMC article.
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Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis.
Gendron TF, Chew J, Stankowski JN, Hayes LR, Zhang YJ, Prudencio M, Carlomagno Y, Daughrity LM, Jansen-West K, Perkerson EA, O'Raw A, Cook C, Pregent L, Belzil V, van Blitterswijk M, Tabassian LJ, Lee CW, Yue M, Tong J, Song Y, Castanedes-Casey M, Rousseau L, Phillips V, Dickson DW, Rademakers R, Fryer JD, Rush BK, Pedraza O, Caputo AM, Desaro P, Palmucci C, Robertson A, Heckman MG, Diehl NN, Wiggs E, Tierney M, Braun L, Farren J, Lacomis D, Ladha S, Fournier CN, McCluskey LF, Elman LB, Toledo JB, McBride JD, Tiloca C, Morelli C, Poletti B, Solca F, Prelle A, Wuu J, Jockel-Balsarotti J, Rigo F, Ambrose C, Datta A, Yang W, Raitcheva D, Antognetti G, McCampbell A, Van Swieten JC, Miller BL, Boxer AL, Brown RH, Bowser R, Miller TM, Trojanowski JQ, Grossman M, Berry JD, Hu WT, Ratti A, Traynor BJ, Disney MD, Benatar M, Silani V, Glass JD, Floeter MK, Rothstein JD, Boylan KB, Petrucelli L.
Gendron TF, et al. Among authors: pregent l.
Sci Transl Med. 2017 Mar 29;9(383):eaai7866. doi: 10.1126/scitranslmed.aai7866.
Sci Transl Med. 2017.
PMID: 28356511
Free PMC article.
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Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight.
Ebbert MTW, Jensen TD, Jansen-West K, Sens JP, Reddy JS, Ridge PG, Kauwe JSK, Belzil V, Pregent L, Carrasquillo MM, Keene D, Larson E, Crane P, Asmann YW, Ertekin-Taner N, Younkin SG, Ross OA, Rademakers R, Petrucelli L, Fryer JD.
Ebbert MTW, et al.
Genome Biol. 2019 May 20;20(1):97. doi: 10.1186/s13059-019-1707-2.
Genome Biol. 2019.
PMID: 31104630
Free PMC article.
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Single-cell dissection of the human motor and prefrontal cortices in ALS and FTLD.
Pineda SS, Lee H, Ulloa-Navas MJ, Linville RM, Garcia FJ, Galani K, Engelberg-Cook E, Castanedes MC, Fitzwalter BE, Pregent LJ, Gardashli ME, DeTure M, Vera-Garcia DV, Hucke ATS, Oskarsson BE, Murray ME, Dickson DW, Heiman M, Belzil VV, Kellis M.
Pineda SS, et al. Among authors: pregent lj.
Cell. 2024 Apr 11;187(8):1971-1989.e16. doi: 10.1016/j.cell.2024.02.031. Epub 2024 Mar 22.
Cell. 2024.
PMID: 38521060
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