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

Nucleotide Excision Repair01:38

Nucleotide Excision Repair

4.9K
DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
4.9K
Nucleotide Excision Repair01:08

Nucleotide Excision Repair

40.5K
Overview
40.5K
Alternative RNA Splicing02:18

Alternative RNA Splicing

24.5K
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...
24.5K
Translation01:31

Translation

17.4K
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
17.4K
Translation01:31

Translation

154.8K
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
154.8K
Exon Recombination02:32

Exon Recombination

4.0K
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...
4.0K

You might also read

Related Articles

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

Sort by
Same author

Basal ganglia neurophysiological markers of non-motor symptoms in Parkinson's disease: A systematic review.

Journal of Parkinson's disease·2026
Same author

CREsted: modeling genomic and synthetic cell-type-specific enhancers across tissues and species.

Nature methods·2026
Same author

Human FUS is toxic via association with RNA polymerase II in Drosophila.

Cell death & disease·2026
Same author

Clioquinol as a new therapy in epilepsy: From preclinical evidence to a proof-of-concept clinical study.

Epilepsia·2025
Same author

Nucleus Basalis of Meynert Volume and Cognitive Impairment in Parkinson's Disease Before and After Deep Brain Stimulation of the Subthalamic Nucleus.

Brain sciences·2025
Same author

Informed Consent Procedure for Research Including Patients with Parkinson's Disease and Cognitive Impairment.

Movement disorders clinical practice·2025
Same journal

Scalable phosphotyrosine enrichment with SH2 superbinder enables deep profiling of EGF responses.

The EMBO journal·2026
Same journal

Essential nucleus-apical pole linkage maintains division fidelity during Plasmodium progeny formation.

The EMBO journal·2026
Same journal

From cell atlases to mechanisms: bridging scRNA-seq discovery with in vivo genetics.

The EMBO journal·2026
Same journal

Mitochondrial calcium regulates lipid metabolism by modulating tethering of mitochondria to lipid droplets.

The EMBO journal·2026
Same journal

Chromosome condensation mechanically primes the nucleus for mitosis.

The EMBO journal·2026
Same journal

NDR kinase SAX-1 controls dendrite branch-specific elimination during neuronal remodeling in C. elegans.

The EMBO journal·2026
See all related articles

Related Experiment Video

Updated: Jan 3, 2026

Measuring RAN Peptide Toxicity in C. elegans
10:49

Measuring RAN Peptide Toxicity in C. elegans

Published on: April 30, 2020

7.0K

RNA toxicity in non-coding repeat expansion disorders.

Bart Swinnen1,2,3, Wim Robberecht1,2,3, Ludo Van Den Bosch1,2

  • 1Department of Neurosciences, Experimental Neurology, Leuven Brain Institute (LBI), KU Leuven - University of Leuven, Leuven, Belgium.

The EMBO Journal
|November 14, 2019
PubMed
Summary
This summary is machine-generated.

Non-coding repeat expansions cause neurodegenerative diseases like ALS. This review highlights RNA toxicity as a key pathogenic mechanism, supported by evidence from various disorders.

Keywords:
C9ORF72 ALS/FTDRNA toxicitynon-coding repeat expansion disorders

More Related Videos

Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion
05:22

Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion

Published on: September 13, 2024

1.2K
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

Published on: September 16, 2019

8.3K

Related Experiment Videos

Last Updated: Jan 3, 2026

Measuring RAN Peptide Toxicity in C. elegans
10:49

Measuring RAN Peptide Toxicity in C. elegans

Published on: April 30, 2020

7.0K
Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion
05:22

Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion

Published on: September 13, 2024

1.2K
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

Published on: September 16, 2019

8.3K

Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS) and spinocerebellar ataxia (SCA), are frequently linked to non-coding nucleotide repeat expansions.
  • Pathogenic mechanisms involve gain-of-function (repeat RNA or repeat-associated non-ATG (RAN) products) and loss-of-function pathways.

Purpose of the Study:

  • To review pathogenic pathways in non-coding repeat expansion disorders.
  • To discuss RNA toxicity mechanisms, focusing on toxic RNA species and their interactions.
  • To explore methods for distinguishing RNA toxicity from RAN toxicity using the C9ORF72 ALS/FTD model.

Main Methods:

  • Literature review of non-coding repeat expansion disorders.
  • Analysis of RNA toxicity pathways and interacting partners.
  • Case study analysis of C9ORF72-linked ALS/FTD to differentiate RNA vs. RAN toxicity.

Main Results:

  • Non-coding repeat expansion disorders encompass a range of conditions including ALS, FTD, myotonic dystrophy, FXTAS, SCA, and Huntington's disease-like 2.
  • RNA toxicity, involving specific RNA species and their interactions, is a significant pathogenic factor.
  • Distinguishing between RNA and RAN toxicity is complex but achievable through various experimental approaches.

Conclusions:

  • There is substantial evidence supporting the role of RNA toxicity in the pathogenesis of non-coding repeat expansion diseases.
  • Understanding these mechanisms is crucial for developing targeted therapies for neurodegenerative conditions.
  • Further research is needed to fully elucidate the interplay between different toxic mechanisms.