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Year | Number of Results |
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2016 | 1 |
2017 | 1 |
2018 | 3 |
2024 | 0 |
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Page 1
PAK1 regulates ATXN1 levels providing an opportunity to modify its toxicity in spinocerebellar ataxia type 1.
Hum Mol Genet. 2018 Aug 15;27(16):2863-2873. doi: 10.1093/hmg/ddy200.
Hum Mol Genet. 2018.
PMID: 29860311
Free PMC article.
ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism.
Rousseaux MWC, Tschumperlin T, Lu HC, Lackey EP, Bondar VV, Wan YW, Tan Q, Adamski CJ, Friedrich J, Twaroski K, Chen W, Tolar J, Henzler C, Sharma A, Bajić A, Lin T, Duvick L, Liu Z, Sillitoe RV, Zoghbi HY, Orr HT.
Rousseaux MWC, et al.
Neuron. 2018 Mar 21;97(6):1235-1243.e5. doi: 10.1016/j.neuron.2018.02.013. Epub 2018 Mar 8.
Neuron. 2018.
PMID: 29526553
Free PMC article.
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Loss of Capicua alters early T cell development and predisposes mice to T cell lymphoblastic leukemia/lymphoma.
Tan Q, Brunetti L, Rousseaux MWC, Lu HC, Wan YW, Revelli JP, Liu Z, Goodell MA, Zoghbi HY.
Tan Q, et al.
Proc Natl Acad Sci U S A. 2018 Feb 13;115(7):E1511-E1519. doi: 10.1073/pnas.1716452115. Epub 2018 Jan 30.
Proc Natl Acad Sci U S A. 2018.
PMID: 29382756
Free PMC article.
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Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.
Lu HC, Tan Q, Rousseaux MW, Wang W, Kim JY, Richman R, Wan YW, Yeh SY, Patel JM, Liu X, Lin T, Lee Y, Fryer JD, Han J, Chahrour M, Finnell RH, Lei Y, Zurita-Jimenez ME, Ahimaz P, Anyane-Yeboa K, Van Maldergem L, Lehalle D, Jean-Marcais N, Mosca-Boidron AL, Thevenon J, Cousin MA, Bro DE, Lanpher BC, Klee EW, Alexander N, Bainbridge MN, Orr HT, Sillitoe RV, Ljungberg MC, Liu Z, Schaaf CP, Zoghbi HY.
Lu HC, et al.
Nat Genet. 2017 Apr;49(4):527-536. doi: 10.1038/ng.3808. Epub 2017 Mar 13.
Nat Genet. 2017.
PMID: 28288114
Free PMC article.
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Extensive cryptic splicing upon loss of RBM17 and TDP43 in neurodegeneration models.
Tan Q, Yalamanchili HK, Park J, De Maio A, Lu HC, Wan YW, White JJ, Bondar VV, Sayegh LS, Liu X, Gao Y, Sillitoe RV, Orr HT, Liu Z, Zoghbi HY.
Tan Q, et al.
Hum Mol Genet. 2016 Dec 1;25(23):5083-5093. doi: 10.1093/hmg/ddw337.
Hum Mol Genet. 2016.
PMID: 28007900
Free PMC article.
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