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.
Abstract
摘要
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本文引用的文献
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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.
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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.
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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.
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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.
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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.
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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.
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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。
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