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Editorial: Proceedings of the "Fourth International Conference of the Premutation: Basic Mechanisms, Clinical Involvement and Therapy".

作者信息

Usdin Karen, Rodriguez-Revenga Laia, Willemsen Rob, Hukema Renate, Giulivi Cecilia

机构信息

Gene Structure and Disease Section, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, United States.

Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona and CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.

出版信息

Front Mol Biosci. 2021 Apr 27;8:671875. doi: 10.3389/fmolb.2021.671875. eCollection 2021.

DOI:10.3389/fmolb.2021.671875
PMID:33987206
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8111284/
Abstract
摘要

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本文引用的文献

1
Neuropathology of RAN translation proteins in fragile X-associated tremor/ataxia syndrome.脆性 X 相关震颤/共济失调综合征中 RAN 翻译蛋白的神经病理学。
Acta Neuropathol Commun. 2019 Oct 30;7(1):152. doi: 10.1186/s40478-019-0782-7.
2
Composition of the Intranuclear Inclusions of Fragile X-associated Tremor/Ataxia Syndrome.脆性 X 相关震颤共济失调综合征核内包涵体的组成。
Acta Neuropathol Commun. 2019 Sep 3;7(1):143. doi: 10.1186/s40478-019-0796-1.
3
Fragile X-Associated Neuropsychiatric Disorders (FXAND).脆性X染色体相关神经精神障碍（FXAND）
Front Psychiatry. 2018 Nov 13;9:564. doi: 10.3389/fpsyt.2018.00564. eCollection 2018.
4
Repeat-associated non-AUG (RAN) translation and other molecular mechanisms in Fragile X Tremor Ataxia Syndrome.脆性X震颤共济失调综合征中的重复相关非AUG（RAN）翻译及其他分子机制。
Brain Res. 2018 Aug 15;1693(Pt A):43-54. doi: 10.1016/j.brainres.2018.02.006. Epub 2018 Feb 14.
5
Sustained expression of FMR1 mRNA from reactivated fragile X syndrome alleles after treatment with small molecules that prevent trimethylation of H3K27.在使用可防止H3K27三甲基化的小分子进行治疗后，脆性X综合征等位基因重新激活，FMR1 mRNA持续表达。
Hum Mol Genet. 2016 Sep 1;25(17):3689-3698. doi: 10.1093/hmg/ddw215. Epub 2016 Jul 4.
6
Altered Bioenergetics in Primary Dermal Fibroblasts from Adult Carriers of the FMR1 Premutation Before the Onset of the Neurodegenerative Disease Fragile X-Associated Tremor/Ataxia Syndrome.在脆性X相关震颤/共济失调综合征这一神经退行性疾病发病前，FMR1前突变成年携带者的原发性皮肤成纤维细胞中的生物能量学改变。
Cerebellum. 2016 Oct;15(5):552-64. doi: 10.1007/s12311-016-0779-8.
7
R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome.与三联体重复扩增相关的R环促进弗里德赖希共济失调和脆性X综合征中的基因沉默。
PLoS Genet. 2014 May 1;10(5):e1004318. doi: 10.1371/journal.pgen.1004318. eCollection 2014 May.
8
Transcription-associated R-loop formation across the human FMR1 CGG-repeat region.转录相关的R环在人类FMR1基因CGG重复区域的形成。
PLoS Genet. 2014 Apr 17;10(4):e1004294. doi: 10.1371/journal.pgen.1004294. eCollection 2014 Apr.
9
Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles.脆性 X 重复序列扩增分析为 45-69 重复等位基因提供了新的风险预测。
Am J Med Genet A. 2013 Apr;161A(4):771-8. doi: 10.1002/ajmg.a.35833. Epub 2013 Feb 26.
10
Impact of the Fragile X mental retardation 1 (FMR1) gene premutation on neuropsychiatric functioning in adult males without fragile X-associated Tremor/Ataxia syndrome: a controlled study.脆性X智力低下1（FMR1）基因前突变对无脆性X相关震颤/共济失调综合征成年男性神经精神功能的影响：一项对照研究。
Am J Med Genet B Neuropsychiatr Genet. 2008 Sep 5;147B(6):859-72. doi: 10.1002/ajmg.b.30685.