Hukema RK - Search Results

1

Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS.

Hukema RK, Buijsen RA, Schonewille M, Raske C, Severijnen LA, Nieuwenhuizen-Bakker I, Verhagen RF, van Dessel L, Maas A, Charlet-Berguerand N, De Zeeuw CI, Hagerman PJ, Berman RF, Willemsen R. Hukema RK, et al. Hum Mol Genet. 2015 Sep 1;24(17):4948-57. doi: 10.1093/hmg/ddv216. Epub 2015 Jun 9. Hum Mol Genet. 2015. PMID: 26060190 Free PMC article.

2

CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome.

Brouwer JR, Huizer K, Severijnen LA, Hukema RK, Berman RF, Oostra BA, Willemsen R. Brouwer JR, et al. Among authors: hukema rk. J Neurochem. 2008 Dec;107(6):1671-82. doi: 10.1111/j.1471-4159.2008.05747.x. Epub 2008 Nov 10. J Neurochem. 2008. PMID: 19014369 Free PMC article.

3

Mouse models of the fragile x premutation and the fragile X associated tremor/ataxia syndrome.

Hunsaker MR, Arque G, Berman RF, Willemsen R, Hukema RK. Hunsaker MR, et al. Among authors: hukema rk. Results Probl Cell Differ. 2012;54:255-69. doi: 10.1007/978-3-642-21649-7_14. Results Probl Cell Differ. 2012. PMID: 22009357 Free PMC article.

4

Induced expression of expanded CGG RNA causes mitochondrial dysfunction in vivo.

Hukema RK, Buijsen RA, Raske C, Severijnen LA, Nieuwenhuizen-Bakker I, Minneboo M, Maas A, de Crom R, Kros JM, Hagerman PJ, Berman RF, Willemsen R. Hukema RK, et al. Cell Cycle. 2014;13(16):2600-8. doi: 10.4161/15384101.2014.943112. Cell Cycle. 2014. PMID: 25486200 Free PMC article.

5

Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome.

Castro H, Kul E, Buijsen RAM, Severijnen LWFM, Willemsen R, Hukema RK, Stork O, Santos M. Castro H, et al. Among authors: hukema rk. Hum Mol Genet. 2017 Jun 1;26(11):2133-2145. doi: 10.1093/hmg/ddx108. Hum Mol Genet. 2017. PMID: 28369393 Free PMC article.

6

Potential pathogenic mechanisms underlying Fragile X Tremor Ataxia Syndrome: RAN translation and/or RNA gain-of-function?

Boivin M, Willemsen R, Hukema RK, Sellier C. Boivin M, et al. Among authors: hukema rk. Eur J Med Genet. 2018 Nov;61(11):674-679. doi: 10.1016/j.ejmg.2017.11.001. Epub 2017 Dec 6. Eur J Med Genet. 2018. PMID: 29223504 Review.

7

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.

8

Small molecule 1a reduces FMRpolyG-mediated toxicity in in vitro and in vivo models for FMR1 premutation.

Haify SN, Buijsen RAM, Verwegen L, Severijnen LWFM, de Boer H, Boumeester V, Monshouwer R, Yang WY, Cameron MD, Willemsen R, Disney MD, Hukema RK. Haify SN, et al. Among authors: hukema rk. Hum Mol Genet. 2021 Aug 12;30(17):1632-1648. doi: 10.1093/hmg/ddab143. Hum Mol Genet. 2021. PMID: 34077515 Free PMC article.

9

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.

10

The 3' UTR of FMR1 mRNA is a target of miR-101, miR-129-5p and miR-221: implications for the molecular pathology of FXTAS at the synapse.

Zongaro S, Hukema R, D'Antoni S, Davidovic L, Barbry P, Catania MV, Willemsen R, Mari B, Bardoni B. Zongaro S, et al. Hum Mol Genet. 2013 May 15;22(10):1971-82. doi: 10.1093/hmg/ddt044. Epub 2013 Feb 5. Hum Mol Genet. 2013. PMID: 23390134

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