Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m6A site accessibility
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DOI: 10.1038/s41467-024-48549-x
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- Robert C. Spitale & Ryan A. Flynn & Qiangfeng Cliff Zhang & Pete Crisalli & Byron Lee & Jong-Wha Jung & Hannes Y. Kuchelmeister & Pedro J. Batista & Eduardo A. Torre & Eric T. Kool & Howard Y. Chang, 2015. "Erratum: Structural imprints in vivo decode RNA regulatory mechanisms," Nature, Nature, vol. 527(7577), pages 264-264, November.
- Omar M. Hedaya & Kadiam C. Venkata Subbaiah & Feng Jiang & Li Huitong Xie & Jiangbin Wu & Eng-Soon Khor & Mingyi Zhu & David H. Mathews & Chris Proschel & Peng Yao, 2023. "Secondary structures that regulate mRNA translation provide insights for ASO-mediated modulation of cardiac hypertrophy," Nature Communications, Nature, vol. 14(1), pages 1-17, December.
- Nian Liu & Qing Dai & Guanqun Zheng & Chuan He & Marc Parisien & Tao Pan, 2015. "N6-methyladenosine-dependent RNA structural switches regulate RNA–protein interactions," Nature, Nature, vol. 518(7540), pages 560-564, February.
- Hao Du & Ya Zhao & Jinqiu He & Yao Zhang & Hairui Xi & Mofang Liu & Jinbiao Ma & Ligang Wu, 2016. "YTHDF2 destabilizes m6A-containing RNA through direct recruitment of the CCR4–NOT deadenylase complex," Nature Communications, Nature, vol. 7(1), pages 1-11, November.
- Abul Arif & Fulvia Terenzi & Alka A. Potdar & Jie Jia & Jessica Sacks & Arnab China & Dalia Halawani & Kommireddy Vasu & Xiaoxia Li & J. Mark Brown & Jie Chen & Sara C. Kozma & George Thomas & Paul L., 2017. "EPRS is a critical mTORC1–S6K1 effector that influences adiposity in mice," Nature, Nature, vol. 542(7641), pages 357-361, February.
- Huihao Zhou & Litao Sun & Xiang-Lei Yang & Paul Schimmel, 2013. "ATP-directed capture of bioactive herbal-based medicine on human tRNA synthetase," Nature, Nature, vol. 494(7435), pages 121-124, February.
- Robert C. Spitale & Ryan A. Flynn & Qiangfeng Cliff Zhang & Pete Crisalli & Byron Lee & Jong-Wha Jung & Hannes Y. Kuchelmeister & Pedro J. Batista & Eduardo A. Torre & Eric T. Kool & Howard Y. Chang, 2015. "Structural imprints in vivo decode RNA regulatory mechanisms," Nature, Nature, vol. 519(7544), pages 486-490, March.
- Dan Dominissini & Sharon Moshitch-Moshkovitz & Schraga Schwartz & Mali Salmon-Divon & Lior Ungar & Sivan Osenberg & Karen Cesarkas & Jasmine Jacob-Hirsch & Ninette Amariglio & Martin Kupiec & Rotem So, 2012. "Topology of the human and mouse m6A RNA methylomes revealed by m6A-seq," Nature, Nature, vol. 485(7397), pages 201-206, May.
- Jun Zhou & Ji Wan & Xiangwei Gao & Xingqian Zhang & Samie R. Jaffrey & Shu-Bing Qian, 2015. "Dynamic m6A mRNA methylation directs translational control of heat shock response," Nature, Nature, vol. 526(7574), pages 591-594, October.
- Matthew S. Elitt & Lilianne Barbar & H. Elizabeth Shick & Berit E. Powers & Yuka Maeno-Hikichi & Mayur Madhavan & Kevin C. Allan & Baraa S. Nawash & Artur S. Gevorgyan & Stevephen Hung & Zachary S. Ne, 2020. "Suppression of proteolipid protein rescues Pelizaeus–Merzbacher disease," Nature, Nature, vol. 585(7825), pages 397-403, September.
- Debjit Khan & Fulvia Terenzi & GuanQun Liu & Prabar K. Ghosh & Fengchun Ye & Kien Nguyen & Arnab China & Iyappan Ramachandiran & Shruti Chakraborty & Jennifer Stefan & Krishnendu Khan & Kommireddy Vas, 2023. "A viral pan-end RNA element and host complex define a SARS-CoV-2 regulon," Nature Communications, Nature, vol. 14(1), pages 1-22, December.
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