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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. Among authors: stetler c. Science. 2015 Jun 5;348(6239):1151-4. doi: 10.1126/science.aaa9344. Epub 2015 May 14. Science. 2015. PMID: 25977373 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: stetler ct. 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.
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: stetler c. 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.
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. Among authors: stetler ct. 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.
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. Among authors: stetler c. Mol Neurodegener. 2012 Jul 10;7:33. doi: 10.1186/1750-1326-7-33. Mol Neurodegener. 2012. PMID: 22781549 Free PMC article.
125 results