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Identification of PSMB5 as a genetic modifier of fragile X-associated tremor/ataxia syndrome.
Kong HE, Lim J, Linsalata A, Kang Y, Malik I, Allen EG, Cao Y, Shubeck L, Johnston R, Huang Y, Gu Y, Guo X, Zwick ME, Qin Z, Wingo TS, Juncos J, Nelson DL, Epstein MP, Cutler DJ, Todd PK, Sherman SL, Warren ST, Jin P. Kong HE, et al. Among authors: todd pk. Proc Natl Acad Sci U S A. 2022 May 31;119(22):e2118124119. doi: 10.1073/pnas.2118124119. Epub 2022 May 26. Proc Natl Acad Sci U S A. 2022. PMID: 35617426 Free PMC article.
CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome.
Todd PK, Oh SY, Krans A, He F, Sellier C, Frazer M, Renoux AJ, Chen KC, Scaglione KM, Basrur V, Elenitoba-Johnson K, Vonsattel JP, Louis ED, Sutton MA, Taylor JP, Mills RE, Charlet-Berguerand N, Paulson HL. Todd PK, et al. Neuron. 2013 May 8;78(3):440-55. doi: 10.1016/j.neuron.2013.03.026. Epub 2013 Apr 18. Neuron. 2013. PMID: 23602499 Free PMC article.
RAN translation-What makes it run?
Green KM, Linsalata AE, Todd PK. Green KM, et al. Among authors: todd pk. Brain Res. 2016 Sep 15;1647:30-42. doi: 10.1016/j.brainres.2016.04.003. Epub 2016 Apr 6. Brain Res. 2016. PMID: 27060770 Free PMC article. Review.
Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome.
Sellier C, Buijsen RAM, He F, Natla S, Jung L, Tropel P, Gaucherot A, Jacobs H, Meziane H, Vincent A, Champy MF, Sorg T, Pavlovic G, Wattenhofer-Donze M, Birling MC, Oulad-Abdelghani M, Eberling P, Ruffenach F, Joint M, Anheim M, Martinez-Cerdeno V, Tassone F, Willemsen R, Hukema RK, Viville S, Martinat C, Todd PK, Charlet-Berguerand N. Sellier C, et al. Among authors: todd pk. Neuron. 2017 Jan 18;93(2):331-347. doi: 10.1016/j.neuron.2016.12.016. Epub 2017 Jan 5. Neuron. 2017. PMID: 28065649 Free PMC article.
89 results