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Page 1
Poly(GR) and poly(GA) in cerebrospinal fluid as potential biomarkers for C9ORF72-ALS/FTD.
Krishnan G, Raitcheva D, Bartlett D, Prudencio M, McKenna-Yasek DM, Douthwright C, Oskarsson BE, Ladha S, King OD, Barmada SJ, Miller TM, Bowser R, Watts JK, Petrucelli L, Brown RH, Kankel MW, Gao FB. Krishnan G, et al. Among authors: petrucelli l. Nat Commun. 2022 May 19;13(1):2799. doi: 10.1038/s41467-022-30387-4. Nat Commun. 2022. PMID: 35589711 Free PMC article.
Progranulin: an emerging target for FTLD therapies.
Gass J, Prudencio M, Stetler C, Petrucelli L. Gass J, et al. Among authors: petrucelli l. Brain Res. 2012 Jun 26;1462:118-28. doi: 10.1016/j.brainres.2012.01.047. Epub 2012 Jan 28. Brain Res. 2012. PMID: 22338605 Free PMC article. Review.
Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor.
Prudencio M, Jansen-West KR, Lee WC, Gendron TF, Zhang YJ, Xu YF, Gass J, Stuani C, Stetler C, Rademakers R, Dickson DW, Buratti E, Petrucelli L. Prudencio M, et al. Among authors: petrucelli l. Proc Natl Acad Sci U S A. 2012 Dec 26;109(52):21510-5. doi: 10.1073/pnas.1211577110. Epub 2012 Dec 10. Proc Natl Acad Sci U S A. 2012. PMID: 23236149 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: petrucelli l. 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.
Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons.
Almeida S, Gascon E, Tran H, Chou HJ, Gendron TF, Degroot S, Tapper AR, Sellier C, Charlet-Berguerand N, Karydas A, Seeley WW, Boxer AL, Petrucelli L, Miller BL, Gao FB. Almeida S, et al. Among authors: petrucelli l. Acta Neuropathol. 2013 Sep;126(3):385-99. doi: 10.1007/s00401-013-1149-y. Epub 2013 Jul 9. Acta Neuropathol. 2013. PMID: 23836290 Free PMC article.
Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72.
Murray ME, Bieniek KF, Banks Greenberg M, DeJesus-Hernandez M, Rutherford NJ, van Blitterswijk M, Niemantsverdriet E, Ash PE, Gendron TF, Kouri N, Baker M, Goodman IJ, Petrucelli L, Rademakers R, Dickson DW. Murray ME, et al. Among authors: petrucelli l. Acta Neuropathol. 2013 Oct;126(4):545-54. doi: 10.1007/s00401-013-1161-2. Epub 2013 Aug 7. Acta Neuropathol. 2013. PMID: 23922030 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: petrucelli l. 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.
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: petrucelli l. 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.
Targeted manipulation of the sortilin-progranulin axis rescues progranulin haploinsufficiency.
Lee WC, Almeida S, Prudencio M, Caulfield TR, Zhang YJ, Tay WM, Bauer PO, Chew J, Sasaguri H, Jansen-West KR, Gendron TF, Stetler CT, Finch N, Mackenzie IR, Rademakers R, Gao FB, Petrucelli L. Lee WC, et al. Among authors: petrucelli l. Hum Mol Genet. 2014 Mar 15;23(6):1467-78. doi: 10.1093/hmg/ddt534. Epub 2013 Oct 26. Hum Mol Genet. 2014. PMID: 24163244 Free PMC article.
338 results