• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

脆性X综合征：衰老视角

Fragile X syndrome: an aging perspective.

作者信息

Schneider Andrea, Ligsay Andrew, Hagerman Randi J

机构信息

MIND Institute, University of California at Davis Medical Center, Sacramento, California, USA.

出版信息

Dev Disabil Res Rev. 2013;18(1):68-74. doi: 10.1002/ddrr.1129.

DOI:10.1002/ddrr.1129
PMID:23949830
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4959461/
Abstract

Cognitive and behavioral correlates of molecular variations related to the FMR1 gene have been studied rather extensively, but research about the long-term outcome in individuals with fragile X spectrum disorders remains sparse. In this review, we present an overview of aging research and recent findings in regard to cellular and clinical manifestations of aging in fragile X syndrome, and the FMR1 premutation.

摘要

与FMR1基因相关的分子变异的认知和行为关联已得到相当广泛的研究，但关于脆性X谱系障碍患者长期预后的研究仍然很少。在这篇综述中，我们概述了衰老研究以及关于脆性X综合征和FMR1前突变衰老的细胞和临床表现的最新发现。

相似文献

1
Fragile X syndrome: an aging perspective.脆性X综合征：衰老视角
Dev Disabil Res Rev. 2013;18(1):68-74. doi: 10.1002/ddrr.1129.
2
A review of fragile X premutation disorders: expanding the psychiatric perspective.脆性X前突变疾病综述：拓展精神病学视角
J Clin Psychiatry. 2009 Jun;70(6):852-62. doi: 10.4088/JCP.08m04476. Epub 2009 May 5.
3
[General and Specific Mechanisms of Visual Cognitive Function Impairment in People with FMRP Deficit].[脆性X智力低下蛋白缺陷人群视觉认知功能损害的一般及特殊机制]
Zh Vyssh Nerv Deiat Im I P Pavlova. 2015 May-Jun;65(3):259-70.
4
Fragile X syndrome: clinical presentation, pathology and treatment.脆性X综合征：临床表现、病理学及治疗
Gac Med Mex. 2020;156(1):60-66. doi: 10.24875/GMM.19005275.
5
Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome.脆性 X 综合征患者诱导多能干细胞模型中 FMR1 基因的表观遗传学特征及神经发育异常。
PLoS One. 2011;6(10):e26203. doi: 10.1371/journal.pone.0026203. Epub 2011 Oct 12.
6
The state of synapses in fragile X syndrome.脆性 X 综合征中的突触状态。
Neuroscientist. 2009 Oct;15(5):549-67. doi: 10.1177/1073858409333075. Epub 2009 Mar 26.
7
Clinical, molecular, and pharmacological aspects of FMR1 related disorders.脆性X智力低下基因1相关疾病的临床、分子及药理学研究进展
Neurologia. 2017 May;32(4):241-252. doi: 10.1016/j.nrl.2014.10.009. Epub 2014 Dec 17.
8
Mosaicism for a full mutation, premutation, and deletion of the CGG repeats results in 22% FMRP and elevated FMR1 mRNA levels in a high-functioning fragile X male.在一名高功能脆性X男性中，CGG重复序列的完全突变、前突变和缺失的嵌合体导致22%的脆性X智力低下蛋白（FMRP）和升高的FMR1 mRNA水平。
Am J Med Genet A. 2006 Jul 1;140(13):1463-71. doi: 10.1002/ajmg.a.31291.
9
Static and dynamic postural control deficits in aging fragile X mental retardation 1 (FMR1) gene premutation carriers.衰老脆性 X 智力低下 1 型 (FMR1) 基因前突变携带者的静态和动态姿势控制缺陷。
J Neurodev Disord. 2019 Jan 21;11(1):2. doi: 10.1186/s11689-018-9261-x.
10
Impaired activity-dependent FMRP translation and enhanced mGluR-dependent LTD in Fragile X premutation mice.脆性 X 前突变小鼠中活动依赖性 FMRP 翻译受损和 mGluR 依赖性 LTD 增强。
Hum Mol Genet. 2013 Mar 15;22(6):1180-92. doi: 10.1093/hmg/dds525. Epub 2012 Dec 18.

引用本文的文献

1
Evaluation of primary markers of inflammation and the systemic inflammation index in specific learning disabilities.特定学习障碍的炎症主要标志物和全身炎症指数的评估。
Biomark Med. 2024;18(20):907-916. doi: 10.1080/17520363.2024.2404387. Epub 2024 Oct 3.
2
FMR1 Protein Expression Correlates with Intelligence Quotient in Both Peripheral Blood Mononuclear Cells and Fibroblasts from Individuals with an FMR1 Mutation.脆性 X 智力低下 1 号蛋白（FMR1）在突变个体的外周血单个核细胞和成纤维细胞中的表达与智商相关。
J Mol Diagn. 2024 Jun;26(6):498-509. doi: 10.1016/j.jmoldx.2024.02.007. Epub 2024 Mar 22.
3
Lifespan trajectory of affect in Cornelia de Lange syndrome: towards a neurobiological hypothesis.科里纳·德·兰格综合征的情感寿命轨迹：走向神经生物学假说。
J Neurodev Disord. 2019 Jun 7;11(1):6. doi: 10.1186/s11689-019-9269-x.
4
Cognitive and behavioral improvement in adults with fragile X syndrome treated with metformin-two cases.脆性 X 综合征成人患者接受二甲双胍治疗后的认知和行为改善：两例报告。
Mol Genet Genomic Med. 2019 Jul;7(7):e00745. doi: 10.1002/mgg3.745. Epub 2019 May 18.
5
Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents.与脆性 X 综合征共同成长：青年患者及其父母的关注和护理需求。
J Autism Dev Disord. 2020 Jun;50(6):2174-2187. doi: 10.1007/s10803-019-03973-7.
6
Executive Functioning Mediates the Effect of Behavioral Problems on Depression in Mothers of Children With Developmental Disabilities.执行功能介导发育障碍儿童母亲的行为问题对抑郁的影响。
Am J Intellect Dev Disabil. 2017 Jan;122(1):11-24. doi: 10.1352/1944-7558-122.1.11.
7
Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders.FMR1相关疾病诊断与筛查中的分子关联及最新进展
Genes (Basel). 2016 Oct 14;7(10):87. doi: 10.3390/genes7100087.
8
Change in the Behavioral Phenotype of Adolescents and Adults with FXS: Role of the Family Environment.脆性X综合征青少年和成人行为表型的变化：家庭环境的作用。
J Autism Dev Disord. 2016 May;46(5):1824-33. doi: 10.1007/s10803-016-2714-8.
9
Clinical and molecular implications of mosaicism in FMR1 full mutations.FMR1 完全突变体镶嵌现象的临床和分子意义。
Front Genet. 2014 Sep 17;5:318. doi: 10.3389/fgene.2014.00318. eCollection 2014.

本文引用的文献

1
Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder.脆性 X 智力低下 1 号前突变伴发孤独症谱系障碍先证者男孩中癫痫发病率增高。
Hum Genet. 2012 Apr;131(4):581-9. doi: 10.1007/s00439-011-1106-6. Epub 2011 Oct 15.
2
Fragile X syndrome: lifespan developmental implications for those without as well as with intellectual disability.脆性 X 综合征：无智力障碍和智力障碍患者的寿命发育影响。
Curr Opin Psychiatry. 2011 Sep;24(5):387-97. doi: 10.1097/YCO.0b013e328349bb77.
3
Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice.脆性 X 相关震颤/共济失调综合征和 CGG 敲入小鼠的脆性 X 前突变携带者中广泛存在非中枢神经系统器官病理学。
Acta Neuropathol. 2011 Oct;122(4):467-79. doi: 10.1007/s00401-011-0860-9. Epub 2011 Jul 23.
4
FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism.脆性 X 智力低下蛋白（FMRP）可使与突触功能和自闭症相关的 mRNA 上的核糖体转运停止。
Cell. 2011 Jul 22;146(2):247-61. doi: 10.1016/j.cell.2011.06.013.
5
Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome.锌转运异常破坏脆性 X 相关震颤共济失调综合征中线粒体蛋白的加工/输入。
Hum Mol Genet. 2011 Aug 1;20(15):3079-92. doi: 10.1093/hmg/ddr211. Epub 2011 May 10.
6
Targeted treatments for fragile X syndrome.脆性 X 综合征的靶向治疗。
J Neurodev Disord. 2011 Sep;3(3):193-210. doi: 10.1007/s11689-011-9074-7. Epub 2011 Feb 19.
7
Autism, Alzheimer disease, and fragile X: APP, FMRP, and mGluR5 are molecular links.自闭症、阿尔茨海默病和脆性 X 综合征：APP、FMRP 和 mGluR5 是分子联系。
Neurology. 2011 Apr 12;76(15):1344-52. doi: 10.1212/WNL.0b013e3182166dc7.
8
Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene.脆性 X 相关震颤/共济失调表型在 FMR1 基因未甲基化全突变的男性携带者中。
Clin Genet. 2012 Jul;82(1):88-92. doi: 10.1111/j.1399-0004.2011.01675.x. Epub 2011 Apr 28.
9
Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056.脆性 X 综合征中 FMR1 基因的表观遗传修饰与 mGluR5 拮抗剂 AFQ056 的不同反应相关。
Sci Transl Med. 2011 Jan 5;3(64):64ra1. doi: 10.1126/scitranslmed.3001708.
10
Fragile X: leading the way for targeted treatments in autism.脆性 X：自闭症靶向治疗的引领者。
Neurotherapeutics. 2010 Jul;7(3):264-74. doi: 10.1016/j.nurt.2010.05.005.