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Links from MedGen

Items: 6

1.
A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult
Katherine E. Hekman, Guo-Yun Yu, Christopher D. Brown, Haipeng Zhu, Xiaofei Du, Kristina Gervin, Dag Erik Undlien, April Peterson, Giovanni Stevanin, H. Brent Clark, Stefan M. Pulst, Thomas D. Bird, Kevin P. White, Christopher M. Gomez
Hum Mol Genet. 2012 Dec 15; 21(26): 5472–5483. Published online 2012 Sep 21. doi: 10.1093/hmg/dds392
PMCID:
PMC3516132
ArticlePubReaderPDF–441KCite
2.
De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus
Maria J Nabais Sá, Alexandra N Olson, Grace Yoon, Graeme A M Nimmo, Christopher M Gomez, Michèl A Willemsen, Francisca Millan, Alexandra Schneider, Rolph Pfundt, Arjan P M de Brouwer, Jonathan D Dinman, Bert B A de Vries
Hum Mol Genet. 2020 Dec 15; 29(24): 3892–3899. Published online 2020 Dec 23. doi: 10.1093/hmg/ddaa270
PMCID:
PMC7907856
ArticlePubReaderPDF–607KCite
3.
Reprogramming the genetic code: The emerging role of ribosomal frameshifting in regulating cellular gene expression
Vivek M. Advani, Jonathan D. Dinman
Bioessays. 2016 Jan; 38(1): 21–26. Published online 2015 Dec 12. doi: 10.1002/bies.201500131
PMCID:
PMC4749135
ArticlePubReaderPDF–571KCite
4.
Cell cycle control (and more) by programmed −1 ribosomal frameshifting: implications for disease and therapeutics
Ashton T Belew, Jonathan D Dinman
Cell Cycle. 2015; 14(2): 172–178. Published online 2015 Jan 13. doi: 10.4161/15384101.2014.989123
PMCID:
PMC4615106
ArticlePubReaderPDF–470KCite
5.
Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics
Shinsuke Fujioka, Christina Sundal, Zbigniew K Wszolek
Orphanet J Rare Dis. 2013; 8: 14. Published online 2013 Jan 18. doi: 10.1186/1750-1172-8-14
PMCID:
PMC3558377
ArticlePubReaderPDF–305KCite
6.
A Comparison of Pathogenic Eukaryotic Elongation Factor 2 (EEF2) Variants in Spinocerebellar Ataxia 26 Versus De Novo Mutations
Hongfei Zhao, Nikolas Mata-Machado
Cureus. 2022 Jul; 14(7): e26857. Published online 2022 Jul 14. doi: 10.7759/cureus.26857
PMCID:
PMC9282719
ArticlePubReaderPDF–559KCite

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