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Related Concept Videos

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...
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...
RNA Splicing01:32

RNA Splicing

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...
RNA Splicing01:32

RNA Splicing

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...
Pre-mRNA Processing: RNA Splicing01:32

Pre-mRNA Processing: RNA Splicing

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...
Alzheimer Disease ll: Pathophysiology01:23

Alzheimer Disease ll: Pathophysiology

Alzheimer disease involves structural changes in the brain that begin long before symptoms appear. The most distinctive features are extracellular neuritic plaques and intracellular neurofibrillary tangles.Neuritic plaques form in the cerebral cortex and around blood vessels. These plaques contain a dense core of beta-amyloid (Aβ)—a toxic protein fragment that clumps outside neurons. The core is surrounded by damaged neuronal extensions, as well as reactive astrocytes and microglia. Abnormal...

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Related Experiment Video

Updated: Jun 16, 2026

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency
08:53

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency

Published on: September 15, 2021

Neurodegenerative spliceosomopathies.

A Mavillonio1, D Rizzini1, S Detassis1

  • 1Laboratory of RNA Biology and Biotechnology, Department of Cellular, Computational and Integrative Biology (CIBIO), University of Trento, Trento, Italy.

Frontiers in Cell and Developmental Biology
|June 15, 2026
PubMed
Summary

Spliceosomal syndromes, caused by splicing defects, preferentially impact the nervous system and retina. This review covers neurodegenerative conditions like spinal muscular atrophy and retinitis pigmentosa, exploring molecular mechanisms and therapeutic targets.

Keywords:
RNA splicingamyotrophic lateral sclerosisretinitis pigmentosasnRNAsspinal muscular atrophyspliceosome

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Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
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Detection of Alternative Splicing During Epithelial-Mesenchymal Transition

Published on: October 9, 2014

Related Experiment Videos

Last Updated: Jun 16, 2026

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency
08:53

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency

Published on: September 15, 2021

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
11:48

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition

Published on: October 9, 2014

Area of Science:

  • Molecular Biology
  • Genetics
  • Neuroscience

Background:

  • Spliceosomal syndromes result from pathogenic variants in spliceosomal components, causing pre-mRNA splicing defects.
  • Despite ubiquitous spliceosome expression, dysfunction disproportionately affects splicing-dependent tissues like the retina and nervous system.

Purpose of the Study:

  • To review neurodegenerative spliceosomopathies, focusing on spinal muscular atrophy, amyotrophic lateral sclerosis, and retinitis pigmentosa.
  • To elucidate the molecular mechanisms driving neuronal and photoreceptor degeneration in these disorders.
  • To discuss shared/distinct mechanisms, tissue specificity, and novel therapeutic strategies targeting RNA splicing.

Main Methods:

  • Literature review of spliceosomal syndromes and neurodegenerative diseases.
  • Analysis of molecular mechanisms involving snRNP biogenesis, spliceosome assembly, and splicing fidelity.
  • Synthesis of current understanding of disease pathogenesis and therapeutic approaches.

Main Results:

  • Alterations in spliceosome function lead to neuronal and photoreceptor degeneration.
  • Specific molecular pathways are implicated in the pathogenesis of diseases like spinal muscular atrophy, amyotrophic lateral sclerosis, and retinitis pigmentosa.
  • Tissue specificity in spliceosomopathies remains incompletely understood but is linked to high splicing dependency.

Conclusions:

  • Dysfunctional RNA splicing is a key driver of neurodegeneration in spliceosomopathies.
  • Understanding shared and distinct molecular mechanisms is crucial for developing targeted therapies.
  • Emerging strategies focus on modulating RNA splicing to treat these debilitating neurological and visual disorders.