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TDP-43 mutations causing amyotrophic lateral sclerosis are associated with altered expression of RNA-binding protein hnRNP K and affect the Nrf2 antioxidant pathway.
Moujalled D, Grubman A, Acevedo K, Yang S, Ke YD, Moujalled DM, Duncan C, Caragounis A, Perera ND, Turner BJ, Prudencio M, Petrucelli L, Blair I, Ittner LM, Crouch PJ, Liddell JR, White AR. Moujalled D, et al. Among authors: petrucelli l. Hum Mol Genet. 2017 May 1;26(9):1732-1746. doi: 10.1093/hmg/ddx093. Hum Mol Genet. 2017. PMID: 28334913
CHIP and Hsp70 regulate tau ubiquitination, degradation and aggregation.
Petrucelli L, Dickson D, Kehoe K, Taylor J, Snyder H, Grover A, De Lucia M, McGowan E, Lewis J, Prihar G, Kim J, Dillmann WH, Browne SE, Hall A, Voellmy R, Tsuboi Y, Dawson TM, Wolozin B, Hardy J, Hutton M. Petrucelli L, et al. Hum Mol Genet. 2004 Apr 1;13(7):703-14. doi: 10.1093/hmg/ddh083. Epub 2004 Feb 12. Hum Mol Genet. 2004. PMID: 14962978
Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.
Rutherford NJ, Zhang YJ, Baker M, Gass JM, Finch NA, Xu YF, Stewart H, Kelley BJ, Kuntz K, Crook RJ, Sreedharan J, Vance C, Sorenson E, Lippa C, Bigio EH, Geschwind DH, Knopman DS, Mitsumoto H, Petersen RC, Cashman NR, Hutton M, Shaw CE, Boylan KB, Boeve B, Graff-Radford NR, Wszolek ZK, Caselli RJ, Dickson DW, Mackenzie IR, Petrucelli L, Rademakers R. Rutherford NJ, et al. Among authors: petrucelli l. PLoS Genet. 2008 Sep 19;4(9):e1000193. doi: 10.1371/journal.pgen.1000193. PLoS Genet. 2008. PMID: 18802454 Free PMC article.
Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity.
Zhang YJ, Xu YF, Cook C, Gendron TF, Roettges P, Link CD, Lin WL, Tong J, Castanedes-Casey M, Ash P, Gass J, Rangachari V, Buratti E, Baralle F, Golde TE, Dickson DW, Petrucelli L. Zhang YJ, et al. Among authors: petrucelli l. Proc Natl Acad Sci U S A. 2009 May 5;106(18):7607-12. doi: 10.1073/pnas.0900688106. Epub 2009 Apr 21. Proc Natl Acad Sci U S A. 2009. PMID: 19383787 Free PMC article.
Neurotoxic effects of TDP-43 overexpression in C. elegans.
Ash PE, Zhang YJ, Roberts CM, Saldi T, Hutter H, Buratti E, Petrucelli L, Link CD. Ash PE, et al. Among authors: petrucelli l. Hum Mol Genet. 2010 Aug 15;19(16):3206-18. doi: 10.1093/hmg/ddq230. Epub 2010 Jun 8. Hum Mol Genet. 2010. PMID: 20530643 Free PMC article.
Wild-type human TDP-43 expression causes TDP-43 phosphorylation, mitochondrial aggregation, motor deficits, and early mortality in transgenic mice.
Xu YF, Gendron TF, Zhang YJ, Lin WL, D'Alton S, Sheng H, Casey MC, Tong J, Knight J, Yu X, Rademakers R, Boylan K, Hutton M, McGowan E, Dickson DW, Lewis J, Petrucelli L. Xu YF, et al. Among authors: petrucelli l. J Neurosci. 2010 Aug 11;30(32):10851-9. doi: 10.1523/JNEUROSCI.1630-10.2010. J Neurosci. 2010. PMID: 20702714 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.
325 results