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mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy.

作者信息

de Paiva Anderson Rodrigues Brandão, Lynch David S, Melo Uirá Souto, Lucato Leandro Tavares, Freua Fernando, de Assis Bruno Della Ripa, Barcelos Isabella, Listik Clarice, de Castro Dos Santos Diego, Macedo-Souza Lúcia Inês, Houlden Henry, Kok Fernando

机构信息

Neurogenetics Unit (A.R.B.d.P., F.F., B.D.R.d.A., I.B., C.L., D.d.C.d.S., F.K.), Neurology Department, Hospital das Clínicas da Universidade de São Paulo, Brazil; Department of Molecular Neuroscience (D.S.L., H.H.), UCL Institute of Neurology, London, UK; Leonard Wolfson Experimental Neurology Centre (D.S.L., H.H.), UCL Institute of Neurology, London, UK; Human Genome and Stem Cell Research Center (U.S.M., L.I.M.-S., F.K.), Department of Genetics and Evolutionary Biology, Instituto de Biociências, Universidade de São Paulo, Brazil; and Neuroradiology Section (L.T.L.), Hospital das Clínicas da Universidade de São Paulo, Brazil.

出版信息

Neurol Genet. 2019 Jan 16;5(1):e306. doi: 10.1212/NXG.0000000000000306. eCollection 2019 Feb.

DOI:10.1212/NXG.0000000000000306
PMID:30697592
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6340380/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/303a/6340380/4f6060a5b629/NG2018009100FF1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/303a/6340380/4f6060a5b629/NG2018009100FF1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/303a/6340380/4f6060a5b629/NG2018009100FF1.jpg

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2
Role of tRNA modifications in human diseases.tRNA 修饰在人类疾病中的作用。
Trends Mol Med. 2014 Jun;20(6):306-14. doi: 10.1016/j.molmed.2014.01.008. Epub 2014 Feb 25.
3
How U38, 39, and 40 of many tRNAs become the targets for pseudouridylation by TruA.许多tRNA的U38、39和40如何成为TruA介导假尿苷化修饰的靶点。
Nat Aging. 2021 Apr;1(4):335-346. doi: 10.1038/s43587-021-00058-y. Epub 2021 Apr 15.
4
The importance of pseudouridylation: human disorders related to the fifth nucleoside.假尿嘧啶核苷修饰的重要性：与第五种核苷相关的人类疾病。
Biol Futur. 2023 Jun;74(1-2):3-15. doi: 10.1007/s42977-023-00158-3. Epub 2023 Mar 31.
5
Destabilization of mutated human PUS3 protein causes intellectual disability.突变型人 PUS3 蛋白的不稳定性导致智力障碍。
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6
The role of altered translation in intellectual disability and epilepsy.翻译改变在智力残疾和癫痫中的作用。
Prog Neurobiol. 2022 Jun;213:102267. doi: 10.1016/j.pneurobio.2022.102267. Epub 2022 Mar 29.
7
PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation.PUS7 缺失导致人类患者的蛋白翻译失调，从而引起严重的神经发育表型。
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