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Page 1
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: song y. 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.
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: song y. Sci Transl Med. 2017 Mar 29;9(383):eaai7866. doi: 10.1126/scitranslmed.aai7866. Sci Transl Med. 2017. PMID: 28356511 Free PMC article.
Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients.
Prudencio M, Gonzales PK, Cook CN, Gendron TF, Daughrity LM, Song Y, Ebbert MTW, van Blitterswijk M, Zhang YJ, Jansen-West K, Baker MC, DeTure M, Rademakers R, Boylan KB, Dickson DW, Petrucelli L, Link CD. Prudencio M, et al. Among authors: song y. Hum Mol Genet. 2017 Sep 1;26(17):3421-3431. doi: 10.1093/hmg/ddx233. Hum Mol Genet. 2017. PMID: 28637276 Free PMC article.
Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis.
Zhang YJ, Gendron TF, Ebbert MTW, O'Raw AD, Yue M, Jansen-West K, Zhang X, Prudencio M, Chew J, Cook CN, Daughrity LM, Tong J, Song Y, Pickles SR, Castanedes-Casey M, Kurti A, Rademakers R, Oskarsson B, Dickson DW, Hu W, Gitler AD, Fryer JD, Petrucelli L. Zhang YJ, et al. Among authors: song y. Nat Med. 2018 Aug;24(8):1136-1142. doi: 10.1038/s41591-018-0071-1. Epub 2018 Jun 25. Nat Med. 2018. PMID: 29942091 Free PMC article.
Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity.
Zhang YJ, Guo L, Gonzales PK, Gendron TF, Wu Y, Jansen-West K, O'Raw AD, Pickles SR, Prudencio M, Carlomagno Y, Gachechiladze MA, Ludwig C, Tian R, Chew J, DeTure M, Lin WL, Tong J, Daughrity LM, Yue M, Song Y, Andersen JW, Castanedes-Casey M, Kurti A, Datta A, Antognetti G, McCampbell A, Rademakers R, Oskarsson B, Dickson DW, Kampmann M, Ward ME, Fryer JD, Link CD, Shorter J, Petrucelli L. Zhang YJ, et al. Among authors: song y. Science. 2019 Feb 15;363(6428):eaav2606. doi: 10.1126/science.aav2606. Science. 2019. PMID: 30765536 Free PMC article.
Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo.
Todd TW, McEachin ZT, Chew J, Burch AR, Jansen-West K, Tong J, Yue M, Song Y, Castanedes-Casey M, Kurti A, Dunmore JH, Fryer JD, Zhang YJ, San Millan B, Teijeira Bautista S, Arias M, Dickson D, Gendron TF, Sobrido MJ, Disney MD, Bassell GJ, Rossoll W, Petrucelli L. Todd TW, et al. Among authors: song y. Cell Rep. 2020 May 5;31(5):107616. doi: 10.1016/j.celrep.2020.107616. Cell Rep. 2020. PMID: 32375043 Free PMC article.
Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia.
Prudencio M, Humphrey J, Pickles S, Brown AL, Hill SE, Kachergus JM, Shi J, Heckman MG, Spiegel MR, Cook C, Song Y, Yue M, Daughrity LM, Carlomagno Y, Jansen-West K, de Castro CF, DeTure M, Koga S, Wang YC, Sivakumar P, Bodo C, Candalija A, Talbot K, Selvaraj BT, Burr K, Chandran S, Newcombe J, Lashley T, Hubbard I, Catalano D, Kim D, Propp N, Fennessey S; NYGC ALS Consortium; Fagegaltier D, Phatnani H, Secrier M, Fisher EM, Oskarsson B, van Blitterswijk M, Rademakers R, Graff-Radford NR, Boeve BF, Knopman DS, Petersen RC, Josephs KA, Thompson EA, Raj T, Ward M, Dickson DW, Gendron TF, Fratta P, Petrucelli L. Prudencio M, et al. Among authors: song y. J Clin Invest. 2020 Nov 2;130(11):6080-6092. doi: 10.1172/JCI139741. J Clin Invest. 2020. PMID: 32790644 Free PMC article.
Evidence of cerebellar TDP-43 loss of function in FTLD-TDP.
Pickles S, Gendron TF, Koike Y, Yue M, Song Y, Kachergus JM, Shi J, DeTure M, Thompson EA, Oskarsson B, Graff-Radford NR, Boeve BF, Petersen RC, Wszolek ZK, Josephs KA, Dickson DW, Petrucelli L, Cook CN, Prudencio M. Pickles S, et al. Among authors: song y. Acta Neuropathol Commun. 2022 Jul 25;10(1):107. doi: 10.1186/s40478-022-01408-6. Acta Neuropathol Commun. 2022. PMID: 35879741 Free PMC article.
TDP-43-regulated cryptic RNAs accumulate in Alzheimer's disease brains.
Estades Ayuso V, Pickles S, Todd T, Yue M, Jansen-West K, Song Y, González Bejarano J, Rawlinson B, DeTure M, Graff-Radford NR, Boeve BF, Knopman DS, Petersen RC, Dickson DW, Josephs KA, Petrucelli L, Prudencio M. Estades Ayuso V, et al. Among authors: song y. Mol Neurodegener. 2023 Aug 21;18(1):57. doi: 10.1186/s13024-023-00646-z. Mol Neurodegener. 2023. PMID: 37605276 Free PMC article.
CRISPR interference to evaluate modifiers of C9ORF72-mediated toxicity in FTD.
Pickles S, Zanetti Alepuz D, Koike Y, Yue M, Tong J, Liu P, Zhou Y, Jansen-West K, Daughrity LM, Song Y, DeTure M, Oskarsson B, Graff-Radford NR, Boeve BF, Petersen RC, Josephs KA, Dickson DW, Ward ME, Dong L, Prudencio M, Cook CN, Petrucelli L. Pickles S, et al. Among authors: song y. Front Cell Dev Biol. 2023 Aug 7;11:1251551. doi: 10.3389/fcell.2023.1251551. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37614226 Free PMC article.
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