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PubMed (GeneRIF) for id: 23352

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Genetic Variants Associated with Episodic Ataxia in Korea.
Choi KD, Kim JS, Kim HJ, Jung I, Jeong SH, Lee SH, Kim DU, Kim SH, Choi SY, Shin JH, Kim DS, Park KP, Kim HS, Choi JH. Choi KD, et al. Sci Rep. 2017 Oct 23;7(1):13855. doi: 10.1038/s41598-017-14254-7. Sci Rep. 2017. PMID: 29062094 Free PMC article.
The ubiquitin ligase Ubr4 controls stability of podocin/MEC-2 supercomplexes.
Rinschen MM, Bharill P, Wu X, Kohli P, Reinert MJ, Kretz O, Saez I, Schermer B, Höhne M, Bartram MP, Aravamudhan S, Brooks BR, Vilchez D, Huber TB, Müller RU, Krüger M, Benzing T. Rinschen MM, et al. Hum Mol Genet. 2016 Apr 1;25(7):1328-44. doi: 10.1093/hmg/ddw016. Epub 2016 Jan 19. Hum Mol Genet. 2016. PMID: 26792178 Free PMC article.
p600/UBR4 in the central nervous system.
Parsons K, Nakatani Y, Nguyen MD. Parsons K, et al. Cell Mol Life Sci. 2015 Mar;72(6):1149-60. doi: 10.1007/s00018-014-1788-8. Epub 2014 Nov 26. Cell Mol Life Sci. 2015. PMID: 25424645 Free PMC article. Review.
A novel locus for episodic ataxia:UBR4 the likely candidate.
Conroy J, McGettigan P, Murphy R, Webb D, Murphy SM, McCoy B, Albertyn C, McCreary D, McDonagh C, Walsh O, Lynch S, Ennis S. Conroy J, et al. Eur J Hum Genet. 2014 Apr;22(4):505-10. doi: 10.1038/ejhg.2013.173. Epub 2013 Aug 28. Eur J Hum Genet. 2014. PMID: 23982692 Free PMC article.
13 results