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相关概念视频

Sex-linked Disorders01:43

Sex-linked Disorders

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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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Nuclear Export of mRNA02:31

Nuclear Export of mRNA

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Before mRNAs are exported to the cytoplasm, it is crucial to check each mRNA for structural and functional integrity. Eukaryotic cells use several different mechanisms, collectively known as mRNA surveillance, to look for irregularities in mRNAs. Irregular or aberrant mRNA are rapidly degraded by various enzymes. If a defective mRNA escapes the surveillance, it would be translated into a protein which would either be non-functional or not function properly. One of the primary irregularities in...
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Nonsense-mediated mRNA Decay02:27

Nonsense-mediated mRNA Decay

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The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
Usually, Upf3 binds to an Exon Junction Complex (EJC) at mRNA splice sites. If a ribosome fully translates the mRNA,...
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Regulated mRNA Transport02:22

Regulated mRNA Transport

5.7K
In eukaryotes, transcription and translation are compartmentalized; an mRNA is first synthesized in the nucleus and then selectively transported to the cytoplasm for protein synthesis. Before transport, a pre-mRNA undergoes several steps of post-transcriptional modifications including splicing, 5' capping, and the addition of a poly-adenine tail. Various proteins bind to the pre-mRNA during these modifications. The mRNA transport takes place with the help of multiple proteins playing...
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相关实验视频

Updated: May 1, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

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脆弱的X智障蛋白向G四重奏mRNA,这些mRNA对神经元功能很重要.

J C Darnell1, K B Jensen, P Jin

  • 1Laboratory of Molecular Neuro-Oncology, The Rockefeller University, New York, NY 10021, USA.

Cell
|November 24, 2001
PubMed
概括
此摘要是机器生成的。

脆弱的X智障蛋白 (FMRP) 在RNA中结合G四重奏,识别关键的mRNA. 这一发现揭示了脆弱的X综合征和智力障碍机制.

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Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation
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Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein
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Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein

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相关实验视频

Last Updated: May 1, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

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Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation
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Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein
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科学领域:

  • 神经生物学 神经生物学 神经生物学
  • 分子生物学分子生物学
  • 遗传学 是一个遗传学.

背景情况:

  • 脆弱X智力障碍综合征是由脆弱X智力障碍蛋白 (FMRP) 功能丧失引起的.
  • FMRP参与mRNA翻译和局部化,但其RNA标是未知的.
  • FMRP含有RNA结合域,并与多体相结合.

研究的目的:

  • 为了确定由FMRP结合的特定RNAs.
  • 了解FMRP-RNA相互作用在脆弱X综合征中的作用.
  • 研究FMRP在调节mRNA中的机制.

主要方法:

  • 采用RNA选择技术来确定FMRP结合伙伴.
  • 在脆弱的X患者细胞中分析了已识别的mRNA的多体组关联.
  • 描述FMRP的RGG盒RNA结合能力.

主要成果:

  • 该FMRP RGG盒子专门结合了分子内G四重奏.
  • 编码突触和发育神经生物学蛋白的mRNA被确定为FMRP目标.
  • 大多数这些向mRNA在脆弱的X患者细胞中表现出改变的多体关联.

结论:

  • G四重奏是FMRP的生理相关目标.
  • FMRP结合mRNAs的失调可能会导致脆弱X综合征的智力障碍.
  • 这项研究确定了新的FMRP目标,并提供了关于脆弱X病原体的见解.