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Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).
Korvatska O, Strand NS, Berndt JD, Strovas T, Chen DH, Leverenz JB, Kiianitsa K, Mata IF, Karakoc E, Greenup JL, Bonkowski E, Chuang J, Moon RT, Eichler EE, Nickerson DA, Zabetian CP, Kraemer BC, Bird TD, Raskind WH. Korvatska O, et al. Hum Mol Genet. 2013 Aug 15;22(16):3259-68. doi: 10.1093/hmg/ddt180. Epub 2013 Apr 16. Hum Mol Genet. 2013. PMID: 23595882 Free PMC article.
The tau tubulin kinases TTBK1/2 promote accumulation of pathological TDP-43.
Liachko NF, McMillan PJ, Strovas TJ, Loomis E, Greenup L, Murrell JR, Ghetti B, Raskind MA, Montine TJ, Bird TD, Leverenz JB, Kraemer BC. Liachko NF, et al. Among authors: strovas tj. PLoS Genet. 2014 Dec 4;10(12):e1004803. doi: 10.1371/journal.pgen.1004803. eCollection 2014 Dec. PLoS Genet. 2014. PMID: 25473830 Free PMC article.
The phosphatase calcineurin regulates pathological TDP-43 phosphorylation.
Liachko NF, Saxton AD, McMillan PJ, Strovas TJ, Currey HN, Taylor LM, Wheeler JM, Oblak AL, Ghetti B, Montine TJ, Keene CD, Raskind MA, Bird TD, Kraemer BC. Liachko NF, et al. Among authors: strovas tj. Acta Neuropathol. 2016 Oct;132(4):545-61. doi: 10.1007/s00401-016-1600-y. Epub 2016 Jul 29. Acta Neuropathol. 2016. PMID: 27473149 Free PMC article.
Activity of the poly(A) binding protein MSUT2 determines susceptibility to pathological tau in the mammalian brain.
Wheeler JM, McMillan P, Strovas TJ, Liachko NF, Amlie-Wolf A, Kow RL, Klein RL, Szot P, Robinson L, Guthrie C, Saxton A, Kanaan NM, Raskind M, Peskind E, Trojanowski JQ, Lee VMY, Wang LS, Keene CD, Bird T, Schellenberg GD, Kraemer B. Wheeler JM, et al. Among authors: strovas tj. Sci Transl Med. 2019 Dec 18;11(523):eaao6545. doi: 10.1126/scitranslmed.aao6545. Sci Transl Med. 2019. PMID: 31852801 Free PMC article.
25 results