Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Alternative RNA Splicing02:18

Alternative RNA Splicing

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...
Targeted Cancer Therapies02:57

Targeted Cancer Therapies

The targeted cancer therapies, also known as “molecular targeted therapies,” take advantage of the molecular and genetic differences between the cancer cells and the normal cells. It needs a thorough understanding of the cancer cells to develop drugs that can target specific molecular aspects that drive the growth, progression, and spread of cancer cells without affecting the growth and survival of other normal cells in the body.
There are several types of targeted therapies against specific...
Nonsense-mediated mRNA Decay02:27

Nonsense-mediated mRNA Decay

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,...
Long-patch Base Excision Repair01:02

Long-patch Base Excision Repair

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:

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

T staging esophageal tumors with x rays.

Optica·2024
Same author

Enhanced detection of threat materials by dark-field x-ray imaging combined with deep neural networks.

Nature communications·2022
Same author

The effect of a variable focal spot size on the contrast channels retrieved in edge-illumination X-ray phase contrast imaging.

Scientific reports·2022
Same author

Viruses transfer the antiviral second messenger cGAMP between cells.

Science (New York, N.Y.)·2015
Same author

Case of Hydrophobia.

British medical journal·2010
Same author

A comparison of the physiological consequences of head-loading and back-loading for African and European women.

European journal of applied physiology·2010
Same journal

Myofibrillar myopathy type 8 mimicking a Limb-Girdle Muscle Dystrophy: the first Tunisian case report.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology·2026
Same journal

Permanent weakness and myopathy in hypokalemic periodic paralysis.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology·2026
Same journal

Risdiplam therapy in adult patients with Spinal muscular Atrophy (SMA). A 24-month-real-world experience at a single muscular centre.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology·2026
Same journal

Lifestyle and dietary measures in Periodic Paralyses.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology·2026
Same journal

Dysferlinopathies: phenotypic study of a Moroccan series of 28 cases.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology·2026
Same journal

Giant cell myositis confined to the lower extremities without associated thymoma or myasthenia gravis: a case report.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology·2026
See all related articles

Related Experiment Video

Updated: Jul 3, 2026

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy
10:30

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy

Published on: May 24, 2016

Optimizing exon skipping therapies for DMD.

T Yokota1, W Duddy, T Partridge

  • 1Children's National Medical Center, Center for Genetic Medicine, Washington, DC 20010, USA. tyokota@cnmcresearch.org

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology
|July 24, 2008
PubMed
Summary
This summary is machine-generated.

Exon skipping therapy uses antisense oligonucleotides to correct Duchenne Muscular Dystrophy (DMD) by removing faulty exons. This approach shows promise for restoring dystrophin expression in animal models with minimal side effects.

More Related Videos

Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides
05:16

Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides

Published on: May 7, 2020

Exon Skipping in Directly Reprogrammed Myotubes Obtained from Human Urine-Derived Cells
06:20

Exon Skipping in Directly Reprogrammed Myotubes Obtained from Human Urine-Derived Cells

Published on: May 7, 2020

Related Experiment Videos

Last Updated: Jul 3, 2026

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy
10:30

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy

Published on: May 24, 2016

Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides
05:16

Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides

Published on: May 7, 2020

Exon Skipping in Directly Reprogrammed Myotubes Obtained from Human Urine-Derived Cells
06:20

Exon Skipping in Directly Reprogrammed Myotubes Obtained from Human Urine-Derived Cells

Published on: May 7, 2020

Area of Science:

  • Biochemistry
  • Genetics
  • Molecular Biology

Background:

  • Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder.
  • Current treatments for DMD are limited.
  • Exon skipping offers a promising therapeutic strategy.

Purpose of the Study:

  • To review recent advancements in exon skipping therapy for DMD.
  • To discuss future strategies for targeting various DMD mutations.

Main Methods:

  • Utilizing antisense oligonucleotides (AOs) to induce exon skipping in pre-mRNA.
  • Employing 2'-O-methylated antisense oligonucleotides (2OMeAOs) and phosphorodiamidate morpholino oligomers (PMOs).
  • Demonstrating efficacy in dystrophic mouse and dog models.

Main Results:

  • Successful restoration of dystrophin expression in animal models.
  • Single or multi-exon skipping achieved with no apparent side effects.
  • Bespoke AO design demonstrated for various mutation types.

Conclusions:

  • Exon skipping is a viable therapeutic approach for a majority of DMD mutations.
  • Further research into AO design and targeting strategies is warranted.
  • This therapy holds potential for treating DMD and related muscular dystrophies.