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Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72.
Zhu Q, Jiang J, Gendron TF, McAlonis-Downes M, Jiang L, Taylor A, Diaz Garcia S, Ghosh Dastidar S, Rodriguez MJ, King P, Zhang Y, La Spada AR, Xu H, Petrucelli L, Ravits J, Da Cruz S, Lagier-Tourenne C, Cleveland DW. Zhu Q, et al. Among authors: zhang y. Nat Neurosci. 2020 May;23(5):615-624. doi: 10.1038/s41593-020-0619-5. Epub 2020 Apr 13. Nat Neurosci. 2020. PMID: 32284607 Free PMC article.
TDP-43 in neurodegenerative disorders.
Cook C, Zhang YJ, Xu YF, Dickson DW, Petrucelli L. Cook C, et al. Expert Opin Biol Ther. 2008 Jul;8(7):969-78. doi: 10.1517/14712598.8.7.969. Expert Opin Biol Ther. 2008. PMID: 18549326 Free PMC article. Review.
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. 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. 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. 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. J Neurosci. 2010 Aug 11;30(32):10851-9. doi: 10.1523/JNEUROSCI.1630-10.2010. J Neurosci. 2010. PMID: 20702714 Free PMC article.
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