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A novel nonsense mutation in the TYMP gene causing MNGIE with multiple intracranial hemorrhages on brain MRI

Zheng Jiang1, Bi Zhao1, Hui-Fang Shang2

  • 1Department of Neurology, West China Hospital, Sichuan University, Wai Nan Guo Xue Xiang 37#, Chengdu, 610041, Sichuan, China.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|November 19, 2020
PubMed
Abstract

No abstract available in PubMed .

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The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
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