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Page 1
Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS.
Gendron TF, Bieniek KF, Zhang YJ, Jansen-West K, Ash PE, Caulfield T, Daughrity L, Dunmore JH, Castanedes-Casey M, Chew J, Cosio DM, van Blitterswijk M, Lee WC, Rademakers R, Boylan KB, Dickson DW, Petrucelli L. Gendron TF, et al. Among authors: boylan kb. Acta Neuropathol. 2013 Dec;126(6):829-44. doi: 10.1007/s00401-013-1192-8. Epub 2013 Oct 16. Acta Neuropathol. 2013. PMID: 24129584 Free PMC article.
Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72.
Murray ME, DeJesus-Hernandez M, Rutherford NJ, Baker M, Duara R, Graff-Radford NR, Wszolek ZK, Ferman TJ, Josephs KA, Boylan KB, Rademakers R, Dickson DW. Murray ME, et al. Among authors: boylan kb. Acta Neuropathol. 2011 Dec;122(6):673-90. doi: 10.1007/s00401-011-0907-y. Epub 2011 Nov 15. Acta Neuropathol. 2011. PMID: 22083254 Free PMC article.
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS.
Ash PE, Bieniek KF, Gendron TF, Caulfield T, Lin WL, Dejesus-Hernandez M, van Blitterswijk MM, Jansen-West K, Paul JW 3rd, Rademakers R, Boylan KB, Dickson DW, Petrucelli L. Ash PE, et al. Among authors: boylan kb. Neuron. 2013 Feb 20;77(4):639-46. doi: 10.1016/j.neuron.2013.02.004. Epub 2013 Feb 12. Neuron. 2013. PMID: 23415312 Free PMC article.
Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study.
van Blitterswijk M, DeJesus-Hernandez M, Niemantsverdriet E, Murray ME, Heckman MG, Diehl NN, Brown PH, Baker MC, Finch NA, Bauer PO, Serrano G, Beach TG, Josephs KA, Knopman DS, Petersen RC, Boeve BF, Graff-Radford NR, Boylan KB, Petrucelli L, Dickson DW, Rademakers R. van Blitterswijk M, et al. Among authors: boylan kb. Lancet Neurol. 2013 Oct;12(10):978-88. doi: 10.1016/S1474-4422(13)70210-2. Epub 2013 Sep 5. Lancet Neurol. 2013. PMID: 24011653 Free PMC article.
TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia.
van Blitterswijk M, Mullen B, Nicholson AM, Bieniek KF, Heckman MG, Baker MC, DeJesus-Hernandez M, Finch NA, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ, White CL 3rd, Strong MJ, Beach TG, Wszolek ZK, Lippa C, Caselli R, Petrucelli L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Mackenzie IR, Seeley WW, Grinberg LT, Miller BL, Boylan KB, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R. van Blitterswijk M, et al. Among authors: boylan kb. Acta Neuropathol. 2014 Mar;127(3):397-406. doi: 10.1007/s00401-013-1240-4. Epub 2014 Jan 3. Acta Neuropathol. 2014. PMID: 24385136 Free PMC article.
Discovery of a biomarker and lead small molecules to target r(GGGGCC)-associated defects in c9FTD/ALS.
Su Z, Zhang Y, Gendron TF, Bauer PO, Chew J, Yang WY, Fostvedt E, Jansen-West K, Belzil VV, Desaro P, Johnston A, Overstreet K, Oh SY, Todd PK, Berry JD, Cudkowicz ME, Boeve BF, Dickson D, Floeter MK, Traynor BJ, Morelli C, Ratti A, Silani V, Rademakers R, Brown RH, Rothstein JD, Boylan KB, Petrucelli L, Disney MD. Su Z, et al. Among authors: boylan kb. Neuron. 2014 Sep 3;83(5):1043-50. doi: 10.1016/j.neuron.2014.07.041. Epub 2014 Aug 14. Neuron. 2014. PMID: 25132468 Free PMC article.
Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress.
Zhang YJ, Jansen-West K, Xu YF, Gendron TF, Bieniek KF, Lin WL, Sasaguri H, Caulfield T, Hubbard J, Daughrity L, Chew J, Belzil VV, Prudencio M, Stankowski JN, Castanedes-Casey M, Whitelaw E, Ash PE, DeTure M, Rademakers R, Boylan KB, Dickson DW, Petrucelli L. Zhang YJ, et al. Among authors: boylan kb. Acta Neuropathol. 2014 Oct;128(4):505-24. doi: 10.1007/s00401-014-1336-5. Epub 2014 Aug 31. Acta Neuropathol. 2014. PMID: 25173361 Free PMC article.
Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene.
van Blitterswijk M, Mullen B, Wojtas A, Heckman MG, Diehl NN, Baker MC, DeJesus-Hernandez M, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ, White CL 3rd, Neumann M, Strong MJ, Beach TG, Wszolek ZK, Lippa C, Caselli R, Petrucelli L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Mackenzie IR, Seeley WW, Grinberg LT, Miller BL, Boylan KB, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R. van Blitterswijk M, et al. Among authors: boylan kb. Mol Neurodegener. 2014 Sep 20;9:38. doi: 10.1186/1750-1326-9-38. Mol Neurodegener. 2014. PMID: 25239657 Free PMC article.
A truncating SOD1 mutation, p.Gly141X, is associated with clinical and pathologic heterogeneity, including frontotemporal lobar degeneration.
Nakamura M, Bieniek KF, Lin WL, Graff-Radford NR, Murray ME, Castanedes-Casey M, Desaro P, Baker MC, Rutherford NJ, Robertson J, Rademakers R, Dickson DW, Boylan KB. Nakamura M, et al. Among authors: boylan kb. Acta Neuropathol. 2015 Jul;130(1):145-57. doi: 10.1007/s00401-015-1431-2. Epub 2015 Apr 28. Acta Neuropathol. 2015. PMID: 25917047 Free PMC article.
73 results