A crystal structure of a model of the repeating r(CGG) transcript found in fragile X syndrome.
作者信息
Kumar Amit, Fang Pengfei, Park Hajeung, Guo Min, Nettles Kendall W, Disney Matthew D
机构信息
Department of Chemistry, The Scripps Research Institute, 130 Scripps Way, Jupiter, FL 33458, USA.
出版信息
Chembiochem. 2011 Sep 19;12(14):2140-2. doi: 10.1002/cbic.201100337. Epub 2011 Jul 15.
Abstract
摘要
相似文献
1
A crystal structure of a model of the repeating r(CGG) transcript found in fragile X syndrome.在脆性X综合征中发现的重复r(CGG)转录本模型的晶体结构。
Chembiochem. 2011 Sep 19;12(14):2140-2. doi: 10.1002/cbic.201100337. Epub 2011 Jul 15.
2
Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats.中等大小或灰色区域脆性X智力低下1等位基因的转录水平升高，且与CGG重复序列的数量相关。
J Med Genet. 2007 Mar;44(3):200-4. doi: 10.1136/jmg.2006.043950. Epub 2006 Aug 11.
3
Abnormal dendrite and spine morphology in primary visual cortex in the CGG knock-in mouse model of the fragile X premutation.脆性 X 前突变 CGG 敲入小鼠模型初级视觉皮层中异常的树突和棘突形态。
Epilepsia. 2012 Jun;53 Suppl 1(0 1):150-60. doi: 10.1111/j.1528-1167.2012.03486.x.
4
FMR1 CGG repeat lengths mediate different regulation of reporter gene expression in comparative transient and locus specific integration assays.FMR1 CGG 重复序列长度在比较瞬时和位点特异性整合测定中调节报告基因表达的方式不同。
Gene. 2011 Oct 15;486(1-2):15-22. doi: 10.1016/j.gene.2011.06.034. Epub 2011 Jul 13.
5
Secondary structure and dynamics of the r(CGG) repeat in the mRNA of the fragile X mental retardation 1 (FMR1) gene.脆性X智力低下1（FMR1）基因mRNA中r（CGG）重复序列的二级结构与动力学
RNA Biol. 2007 Sep;4(2):93-100. doi: 10.4161/rna.4.2.5039. Epub 2007 Sep 12.
6
Fragile X syndrome: keys to the molecular genetics of synaptic plasticity.脆性X综合征：突触可塑性分子遗传学的关键
J Am Acad Child Adolesc Psychiatry. 2008 Jul;47(7):736-739. doi: 10.1097/CHI.0b013e3181739619.
7
A distinct DNA-methylation boundary in the 5'- upstream sequence of the FMR1 promoter binds nuclear proteins and is lost in fragile X syndrome.FMR1基因启动子5'-上游序列中一个独特的DNA甲基化边界可结合核蛋白，且在脆性X综合征中消失。
Am J Hum Genet. 2009 Nov;85(5):606-16. doi: 10.1016/j.ajhg.2009.09.018. Epub 2009 Oct 22.
8
First in vivo evidence of microRNA-induced fragile X mental retardation syndrome.微小RNA诱导脆性X智力障碍综合征的首个体内证据。
Mol Psychiatry. 2006 Jul;11(7):616-7. doi: 10.1038/sj.mp.4001828.
9
Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients.
Hum Mol Genet. 1995 Jan;4(1):45-9. doi: 10.1093/hmg/4.1.45.
10
Whole genome microarray analysis of gene expression in subjects with fragile X syndrome.脆性X综合征患者基因表达的全基因组微阵列分析。
Genet Med. 2007 Jul;9(7):464-72. doi: 10.1097/gim.0b013e3180ca9a9a.
引用本文的文献
1
Tyrosine Peptides Alleviates Multifaceted Toxicity Linked to Expanded CGG Repeats in Fragile X‑Associated Tremor/Ataxia Syndrome.酪氨酸肽减轻与脆性X相关震颤/共济失调综合征中CGG重复序列扩增相关的多方面毒性。
ACS Pharmacol Transl Sci. 2025 Feb 25;8(6):1536-1555. doi: 10.1021/acsptsci.4c00647. eCollection 2025 Jun 13.
2
Experimental and computational investigations of RNA duplexes containing N7-regioisomers of adenosine and LNA-adenosine.含腺苷N7-区域异构体和锁核酸-腺苷的RNA双链体的实验与计算研究
Nucleic Acids Res. 2025 Jan 7;53(1). doi: 10.1093/nar/gkae1222.
3
Structural and Dynamical Properties of Nucleic Acid Hairpins Implicated in Trinucleotide Repeat Expansion Diseases.与三核苷酸重复扩展疾病相关的核酸发夹的结构和动力学性质。
Biomolecules. 2024 Oct 10;14(10):1278. doi: 10.3390/biom14101278.
4
Small Molecule Screening Discovers Compounds that Reduce FMRpolyG Protein Aggregates and Splicing Defect Toxicity in Fragile X-Associated Tremor/Ataxia Syndrome.小分子筛选发现可减少脆性 X 相关震颤/共济失调综合征中 FMRpolyG 蛋白聚集体和剪接缺陷毒性的化合物。
Mol Neurobiol. 2022 Mar;59(3):1992-2007. doi: 10.1007/s12035-021-02697-z. Epub 2022 Jan 18.
5
Molecular conformations and dynamics of nucleotide repeats associated with neurodegenerative diseases: double helices and CAG hairpin loops.与神经退行性疾病相关的核苷酸重复序列的分子构象与动力学：双螺旋和CAG发夹环
Comput Struct Biotechnol J. 2021 Apr 26;19:2819-2832. doi: 10.1016/j.csbj.2021.04.037. eCollection 2021.
6
Secondary structural choice of DNA and RNA associated with CGG/CCG trinucleotide repeat expansion rationalizes the RNA misprocessing in FXTAS.与 CGG/CCG 三核苷酸重复扩增相关的 DNA 和 RNA 的二级结构选择合理地解释了 FXTAS 中的 RNA 错误加工。
Sci Rep. 2021 Apr 14;11(1):8163. doi: 10.1038/s41598-021-87097-y.
7
Atypical structures of GAA/TTC trinucleotide repeats underlying Friedreich's ataxia: DNA triplexes and RNA/DNA hybrids.导致弗里德里希共济失调的 GAA/TTC 三核苷酸重复的非典型结构：DNA 三链体和 RNA/DNA 杂交体。
Nucleic Acids Res. 2020 Sep 25;48(17):9899-9917. doi: 10.1093/nar/gkaa665.
8
Curcumin Regulates the r(CGG) RNA Hairpin Structure and Ameliorate Defects in Fragile X-Associated Tremor Ataxia Syndrome.姜黄素调节r(CGG) RNA发夹结构并改善脆性X相关震颤共济失调综合征的缺陷。
Front Neurosci. 2020 Apr 7;14:295. doi: 10.3389/fnins.2020.00295. eCollection 2020.
9
Structure and Dynamics of DNA and RNA Double Helices Obtained from the CCG and GGC Trinucleotide Repeats.CCG 和 GGC 三核苷酸重复序列中得到的 DNA 和 RNA 双螺旋结构与动力学。
J Phys Chem B. 2018 Apr 26;122(16):4491-4512. doi: 10.1021/acs.jpcb.8b01658. Epub 2018 Apr 17.
10
Structural and Dynamical Characterization of DNA and RNA Quadruplexes Obtained from the GGGGCC and GGGCCT Hexanucleotide Repeats Associated with C9FTD/ALS and SCA36 Diseases.与 C9FTD/ALS 和 SCA36 疾病相关的 GGGGCC 和 GGGCCT 六核苷酸重复序列的 DNA 和 RNA 四链体的结构和动力学特征。
ACS Chem Neurosci. 2018 May 16;9(5):1104-1117. doi: 10.1021/acschemneuro.7b00476. Epub 2018 Jan 12.
本文引用的文献
1
NMR spectroscopy and molecular dynamics simulation of r(CCGCUGCGG)₂ reveal a dynamic UU internal loop found in myotonic dystrophy type 1.NMR 光谱和分子动力学模拟 r(CCGCUGCGG)₂ 揭示了肌强直性营养不良 1 型中发现的动态 UU 内环。
Biochemistry. 2011 Feb 8;50(5):599-601. doi: 10.1021/bi101896j. Epub 2011 Jan 13.
2
Atomic resolution structure of CAG RNA repeats: structural insights and implications for the trinucleotide repeat expansion diseases.CAG RNA 重复的原子分辨率结构：结构见解及其对三核苷酸重复扩展疾病的影响。
Nucleic Acids Res. 2010 Dec;38(22):8370-6. doi: 10.1093/nar/gkq700. Epub 2010 Aug 11.
3
A'-form RNA helices are required for cytoplasmic mRNA transport in Drosophila.A'- 构象的 RNA 螺旋对于果蝇细胞质 mRNA 运输是必需的。
Nat Struct Mol Biol. 2010 Jun;17(6):703-9. doi: 10.1038/nsmb.1813. Epub 2010 May 16.
4
Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients.Sam68 隔离和部分功能丧失与 FXTAS 患者的剪接改变有关。
EMBO J. 2010 Apr 7;29(7):1248-61. doi: 10.1038/emboj.2010.21. Epub 2010 Feb 25.
5
Structural diversity of triplet repeat RNAs.三核苷酸重复 RNA 的结构多样性。
J Biol Chem. 2010 Apr 23;285(17):12755-64. doi: 10.1074/jbc.M109.078790. Epub 2010 Feb 16.
6
Pentamidine reverses the splicing defects associated with myotonic dystrophy.喷他脒可逆转与强直性肌营养不良相关的剪接缺陷。
Proc Natl Acad Sci U S A. 2009 Nov 3;106(44):18551-6. doi: 10.1073/pnas.0903234106. Epub 2009 Oct 12.
7
Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA.通过置换隔离于三联体重复RNA上的蛋白质来逆转RNA主导地位。
Science. 2009 Jul 17;325(5938):336-9. doi: 10.1126/science.1173110.
8
Rational design of ligands targeting triplet repeating transcripts that cause RNA dominant disease: application to myotonic muscular dystrophy type 1 and spinocerebellar ataxia type 3.针对导致RNA显性疾病的三联体重复转录本的配体的合理设计：应用于1型强直性肌营养不良和3型脊髓小脑共济失调。
J Am Chem Soc. 2009 Jul 22;131(28):9767-79. doi: 10.1021/ja9020149.
9
Structural insights into CUG repeats containing the 'stretched U-U wobble': implications for myotonic dystrophy.对包含“伸展的U-U摆动”的CUG重复序列的结构见解：对强直性肌营养不良的影响。
Nucleic Acids Res. 2009 Jul;37(12):4149-56. doi: 10.1093/nar/gkp350. Epub 2009 May 11.
10
Rational and modular design of potent ligands targeting the RNA that causes myotonic dystrophy 2.针对导致强直性肌营养不良2型的RNA的强效配体的合理且模块化设计。
ACS Chem Biol. 2009 May 15;4(5):345-55. doi: 10.1021/cb900025w.
Zotero 插件