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Page 1
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.
Gennarino VA, Palmer EE, McDonell LM, Wang L, Adamski CJ, Koire A, See L, Chen CA, Schaaf CP, Rosenfeld JA, Panzer JA, Moog U, Hao S, Bye A, Kirk EP, Stankiewicz P, Breman AM, McBride A, Kandula T, Dubbs HA, Macintosh R, Cardamone M, Zhu Y, Ying K, Dias KR, Cho MT, Henderson LB, Baskin B, Morris P, Tao J, Cowley MJ, Dinger ME, Roscioli T, Caluseriu O, Suchowersky O, Sachdev RK, Lichtarge O, Tang J, Boycott KM, Holder JL Jr, Zoghbi HY. Gennarino VA, et al. Among authors: adamski cj. Cell. 2018 Feb 22;172(5):924-936.e11. doi: 10.1016/j.cell.2018.02.006. Cell. 2018. PMID: 29474920 Free PMC article.
An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function.
Wang L, Pang K, Han K, Adamski CJ, Wang W, He L, Lai JK, Bondar VV, Duman JG, Richman R, Tolias KF, Barth P, Palzkill T, Liu Z, Holder JL Jr, Zoghbi HY. Wang L, et al. Among authors: adamski cj. Mol Psychiatry. 2020 Oct;25(10):2534-2555. doi: 10.1038/s41380-018-0324-x. Epub 2019 Jan 4. Mol Psychiatry. 2020. PMID: 30610205 Free PMC article.
Dual targeting of brain region-specific kinases potentiates neurological rescue in Spinocerebellar ataxia type 1.
Lee WS, Lavery L, Rousseaux MWC, Rutledge EB, Jang Y, Wan YW, Wu SR, Kim W, Al-Ramahi I, Rath S, Adamski CJ, Bondar VV, Tewari A, Soleimani S, Mota S, Yalamanchili HK, Orr HT, Liu Z, Botas J, Zoghbi HY. Lee WS, et al. Among authors: adamski cj. EMBO J. 2021 Apr 1;40(7):e106106. doi: 10.15252/embj.2020106106. Epub 2021 Mar 11. EMBO J. 2021. PMID: 33709453 Free PMC article.
Doublecortin-like Kinase 1 Regulates α-Synuclein Levels and Toxicity.
Vázquez-Vélez GE, Gonzales KA, Revelli JP, Adamski CJ, Alavi Naini F, Bajić A, Craigen E, Richman R, Heman-Ackah SM, Wood MJA, Rousseaux MWC, Zoghbi HY. Vázquez-Vélez GE, et al. Among authors: adamski cj. J Neurosci. 2020 Jan 8;40(2):459-477. doi: 10.1523/JNEUROSCI.1076-19.2019. Epub 2019 Nov 20. J Neurosci. 2020. PMID: 31748376 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. Among authors: adamski cj. 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.
Reduction of protein kinase A-mediated phosphorylation of ATXN1-S776 in Purkinje cells delays onset of Ataxia in a SCA1 mouse model.
Pérez Ortiz JM, Mollema N, Toker N, Adamski CJ, O'Callaghan B, Duvick L, Friedrich J, Walters MA, Strasser J, Hawkinson JE, Zoghbi HY, Henzler C, Orr HT, Lagalwar S. Pérez Ortiz JM, et al. Among authors: adamski cj. Neurobiol Dis. 2018 Aug;116:93-105. doi: 10.1016/j.nbd.2018.05.002. Epub 2018 May 11. Neurobiol Dis. 2018. PMID: 29758256 Free PMC article.
21 results