| 1 | GDHS, RNF216
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| Mechanism and chain specificity of RNF216/TRIAD3, the ubiquitin ligase mutated in Gordon Holmes syndrome.
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| Seenivasan R, Hermanns T, Blyszcz T, Lammers M, Praefcke GJK, Hofmann K.
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| Hum Mol Genet 28(17):2862-2873. doi: 10.1093/hmg/ddz098.
2019
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| 2 | GDHS, RNF216
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| TRIAD3/RNF216 E3 ligase specifically synthesises K63-linked ubiquitin chains and is inactivated by mutations associated with Gordon Holmes syndrome.
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| Schwintzer L, Aguado Roca E, Broemer M.
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| Cell Death Discov 5:75. doi: 10.1038/s41420-019-0158-6. eCollection 2019.
2019
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| 3 | GDHS, RNF216
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| TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation.
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| Husain N, Yuan Q, Yen YC, Pletnikova O, Sally DQ, Worley P, Bichler Z, Shawn Je H.
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| Aging Cell 16(2):281-292. doi: 10.1111/acel.12551. Epub 2016 Dec 20.
2017
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| 4 | GDHS, RNF216
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| RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder.
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| Santens P, Van Damme T, Steyaert W, Willaert A, Sablonnière B, De Paepe A, Coucke PJ, Dermaut B.
|
| Neurology 84(17):1760-6. doi: 10.1212/WNL.0000000000001521. Epub 2015 Apr 3.
2015
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| 5 | GDHS, RNF216
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| Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.
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| Margolin DH, Kousi M, Chan YM, Lim ET, Schmahmann JD, Hadjivassiliou M, Hall JE, Adam I, Dwyer A, Plummer L, Aldrin SV, O'Rourke J, Kirby A, Lage K, Milunsky A, Milunsky JM, Chan J, Hedley-Whyte ET, Daly MJ, Katsanis N, Seminara SB.
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| N Engl J Med 368(21):1992-2003. doi: 10.1056/NEJMoa1215993. Epub 2013 May 8.
2013
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| 6 | GDHS
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| Congenital cerebellar hypoplasia and hypogonadotropic hypogonadism.
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| Abs R, Van Vleymen E, Parizel PM, Van Acker K, Martin M, Martin JJ.
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| J Neurol Sci 98(2-3):259-65.
1990
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