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Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease.
Ebbert MTW, Farrugia SL, Sens JP, Jansen-West K, Gendron TF, Prudencio M, McLaughlin IJ, Bowman B, Seetin M, DeJesus-Hernandez M, Jackson J, Brown PH, Dickson DW, van Blitterswijk M, Rademakers R, Petrucelli L, Fryer JD. Ebbert MTW, et al. Mol Neurodegener. 2018 Aug 21;13(1):46. doi: 10.1186/s13024-018-0274-4. Mol Neurodegener. 2018. PMID: 30126445 Free PMC article.
Progranulin regulates neuronal outgrowth independent of sortilin.
Gass J, Lee WC, Cook C, Finch N, Stetler C, Jansen-West K, Lewis J, Link CD, Rademakers R, Nykjær A, Petrucelli L. Gass J, et al. Mol Neurodegener. 2012 Jul 10;7:33. doi: 10.1186/1750-1326-7-33. Mol Neurodegener. 2012. PMID: 22781549 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. 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. 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.
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. 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. 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.
Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits.
Chew J, Gendron TF, Prudencio M, Sasaguri H, Zhang YJ, Castanedes-Casey M, Lee CW, Jansen-West K, Kurti A, Murray ME, Bieniek KF, Bauer PO, Whitelaw EC, Rousseau L, Stankowski JN, Stetler C, Daughrity LM, Perkerson EA, Desaro P, Johnston A, Overstreet K, Edbauer D, Rademakers R, Boylan KB, Dickson DW, Fryer JD, Petrucelli L. Chew J, et al. Science. 2015 Jun 5;348(6239):1151-4. doi: 10.1126/science.aaa9344. Epub 2015 May 14. Science. 2015. PMID: 25977373 Free PMC article.
69 results