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A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD.
Hukema RK, Riemslagh FW, Melhem S, van der Linde HC, Severijnen LA, Edbauer D, Maas A, Charlet-Berguerand N, Willemsen R, van Swieten JC. Hukema RK, et al. Acta Neuropathol Commun. 2014 Dec 13;2:166. doi: 10.1186/s40478-014-0166-y. Acta Neuropathol Commun. 2014. Retraction in: Acta Neuropathol Commun. 2016 Dec 9;4(1):129. doi: 10.1186/s40478-016-0401-9 PMID: 25523491 Free PMC article. Retracted. No abstract available.
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: hukema rk. 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.
Astroglial-targeted expression of the fragile X CGG repeat premutation in mice yields RAN translation, motor deficits and possible evidence for cell-to-cell propagation of FXTAS pathology.
Wenzel HJ, Murray KD, Haify SN, Hunsaker MR, Schwartzer JJ, Kim K, La Spada AR, Sopher BL, Hagerman PJ, Raske C, Severijnen LWFM, Willemsen R, Hukema RK, Berman RF. Wenzel HJ, et al. Among authors: hukema rk. Acta Neuropathol Commun. 2019 Feb 26;7(1):27. doi: 10.1186/s40478-019-0677-7. Acta Neuropathol Commun. 2019. PMID: 30808398 Free PMC article.
Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency.
Buijsen RA, Visser JA, Kramer P, Severijnen EA, Gearing M, Charlet-Berguerand N, Sherman SL, Berman RF, Willemsen R, Hukema RK. Buijsen RA, et al. Among authors: hukema rk. Hum Reprod. 2016 Jan;31(1):158-68. doi: 10.1093/humrep/dev280. Epub 2015 Nov 3. Hum Reprod. 2016. PMID: 26537920 Free PMC article.
Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice.
Hunsaker MR, Greco CM, Spath MA, Smits AP, Navarro CS, Tassone F, Kros JM, Severijnen LA, Berry-Kravis EM, Berman RF, Hagerman PJ, Willemsen R, Hagerman RJ, Hukema RK. Hunsaker MR, et al. Among authors: hukema rk. Acta Neuropathol. 2011 Oct;122(4):467-79. doi: 10.1007/s00401-011-0860-9. Epub 2011 Jul 23. Acta Neuropathol. 2011. PMID: 21785977 Free PMC article.
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