Jove
Visualize
お問い合わせ
JoVE
x logofacebook logolinkedin logoyoutube logo
JoVEについて
概要リーダーシップブログJoVEヘルプセンター
著者向け
出版プロセス編集委員会範囲と方針査読よくある質問投稿
図書館員向け
推薦の声購読アクセスリソース図書館諮問委員会よくある質問
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experimentsアーカイブ
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教員リソースセンター教員サイト
利用規約
プライバシーポリシー
ポリシー

関連する概念動画

Satellite Stem Cells and Muscular Dystrophy01:21

Satellite Stem Cells and Muscular Dystrophy

2.4K
Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
2.4K
RNA Splicing01:32

RNA Splicing

61.0K
Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
61.0K
Alternative RNA Splicing02:18

Alternative RNA Splicing

25.4K
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
25.4K
Long-patch Base Excision Repair01:02

Long-patch Base Excision Repair

8.1K
Since the discovery of the two BER pathways, there has been a debate about how a cell chooses one pathway over the other and the factors determining this selection. Numerous in vitro experiments have pointed out multiple determinants for the sub-pathway selection. These are:
8.1K
Pre-mRNA Processing: RNA Splicing01:36

Pre-mRNA Processing: RNA Splicing

7.2K
7.2K

こちらも読む

関連記事

共著者、ジャーナル、引用グラフによってこの研究に関連する記事。

並び替え
Same author

The mechanism of intestinal IgA class switching regulated by TRIM21 through down-regulation of AID in IgA nephropathy.

International immunopharmacology·2026
Same author

<i>Ex vivo</i> bradykinin as a functional biomarker for angioedema with normal C1-inhibitor.

The journal of allergy and clinical immunology. Global·2026
Same author

Association of endothelial activation and stress index with all-cause and cardiovascular mortality in patients with diabetic kidney disease: a population-based prospective study.

Diabetology & metabolic syndrome·2026
Same author

RETRACTED ARTICLE: AI-Empowered assistive technology for optimizing specimen submission in obstetrics and gynecology: integrating DeepSeek with the ADDIE model.

Disability and rehabilitation. Assistive technology·2025
Same author

Bradykinin measurement by liquid chromatography tandem mass spectrometry in subjects with hereditary angioedema enhanced by cold activation.

The journal of allergy and clinical immunology. Global·2025
Same author

Vamp3/syntaxin 4 mediates the basolateral membrane fusion of TfR transcytosis across the BBB and is exploited by pathogenic <i>E. coli</i>.

Proceedings of the National Academy of Sciences of the United States of America·2025
Same journal

A viral ORFeome library for systems-level genetic dissection of host-pathogen interactions.

Cell·2026
Same journal

Co-option of lysosomal machinery shapes the evolution of the intracellular photosymbiosis supporting coral reefs.

Cell·2026
Same journal

LEF1 and niche factors determine T cell stemness across chronic diseases.

Cell·2026
Same journal

Recurrent patterns of TOP1-mediated neuronal genomic damage shared by major neurodegenerative disorders.

Cell·2026
Same journal

Four-dimensional molecular mapping from a spatial snapshot reveals the dynamics of hair follicle organogenesis.

Cell·2026
Same journal

Whole-cell particle-based digital twin simulations from 4D lattice light-sheet microscopy data.

Cell·2026
関連記事をすべて見る

関連する実験動画

Updated: Feb 27, 2026

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
07:02

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Published on: May 11, 2018

14.5K

SMAに対するスプライシング矯正療法

Lili Wan1, Gideon Dreyfuss1

  • 1Howard Hughes Medical Institute, Department of Biochemistry and Biophysics, University of Pennsylvania, School of Medicine, Philadelphia, PA 19104, USA.

Cell
|July 1, 2017
PubMed
まとめ
この要約は機械生成です。

脊髄筋縮 (SMA) は,低SMNタンパク質によって引き起こされる遺伝疾患です. SMN2イントロン7スプライシングサイレンサーを標的としたアンチセンスの治療は,SMA患者のSMN発現と運動機能を改善することができます.

さらに関連する動画

Delivery of Therapeutic Agents Through Intracerebroventricular ICV and Intravenous IV Injection in Mice
05:55

Delivery of Therapeutic Agents Through Intracerebroventricular ICV and Intravenous IV Injection in Mice

Published on: October 3, 2011

63.5K
Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders
10:28

Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders

Published on: April 3, 2021

7.2K

関連する実験動画

Last Updated: Feb 27, 2026

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
07:02

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Published on: May 11, 2018

14.5K
Delivery of Therapeutic Agents Through Intracerebroventricular ICV and Intravenous IV Injection in Mice
05:55

Delivery of Therapeutic Agents Through Intracerebroventricular ICV and Intravenous IV Injection in Mice

Published on: October 3, 2011

63.5K
Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders
10:28

Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders

Published on: April 3, 2021

7.2K

科学分野:

  • 遺伝学
  • 分子生物学
  • 神経科学

背景:

  • 脊髄筋縮 (SMA) は,スピライソームの生殖に不可欠な生存モーターニューロン (SMN) タンパク質の欠乏から生じる.
  • ほとんどのSMA患者はSMN1の欠損を有し,SMN2を主なSMNタンパク質源とする.
  • SMN2における特定のC-T置換は,エクソニック・スプライシング・エンハンサー (ESE) をエクソニック・スプライシング・サイレンサー (ESS) に変換することでスプライシングを変化させ,エクソン7のスキップにつながります.

研究 の 目的:

  • SMN2遺伝子を標的にして脊髄筋縮の治療の可能性を調査する.
  • SMN2イントロン7スプライシングサイレンサー (ISS) を対象としたアンチセンセスの処理が,SMN発現と運動機能を改善する効果を評価する.

主な方法:

  • 脊髄筋縮 (SMA) のSMNタンパク質欠乏症の分析
  • SMN2前mRNAにおけるCからTの置換によるエクソン7のスキップの分子メカニズムの調査.
  • SMN2イントロン7スプライシングサイレンサー (ISS) を標的としたアンチセンセスの処理の適用.

主要な成果:

  • SMN2イントロン7スプライシングサイレンサー (ISS) を標的としたアンチセンセスの治療は,SMN発現を改善することが示された.
  • この治療は,SMA患者の運動機能の改善にもつながりました.

結論:

  • SMN2イントロン7スプライシングサイレンサー (ISS) をアンチセンセスの技術で標的にすることは,脊髄筋縮 (SMA) に対する有望な治療戦略です.
  • このアプローチはSMNタンパク質のレベルを効果的に高め,運動欠陥を改善し,SMA患者にとって潜在的な治療の経路を提供します.