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Related Concept Videos

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...
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...
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,...
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,...
Nuclear Export of mRNA02:31

Nuclear Export of mRNA

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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Related Experiment Video

Updated: May 23, 2026

Optogenetic Phase Transition of TDP-43 in Spinal Motor Neurons of Zebrafish Larvae
07:14

Optogenetic Phase Transition of TDP-43 in Spinal Motor Neurons of Zebrafish Larvae

Published on: February 25, 2022

Misregulated RNA processing in amyotrophic lateral sclerosis.

Magdalini Polymenidou1, Clotilde Lagier-Tourenne, Kasey R Hutt

  • 1Ludwig Institute for Cancer Research, University of California at San Diego, La Jolla, CA 92093-6070, USA.

Brain Research
|March 27, 2012
PubMed
Summary
This summary is machine-generated.

Recent discoveries in amyotrophic lateral sclerosis (ALS) highlight shared genetic causes and pathogenic pathways with frontotemporal lobar degeneration (FTLD). Both diseases involve RNA processing disruptions linked to proteins like TDP-43, FUS/TLS, and C9orf72 gene expansions.

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Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) share significant genetic, clinical, and pathological features.
  • Advances in genetic research have identified key genes implicated in both neurodegenerative diseases.

Purpose of the Study:

  • To review recent discoveries in ALS genetics.
  • To emphasize the genetic and molecular links between ALS and FTLD.
  • To highlight the role of RNA-binding proteins in the pathogenesis of these diseases.

Main Methods:

  • Review of recent genetic discoveries in ALS.
  • Analysis of common genetic mutations and their pathogenic mechanisms in ALS and FTLD.
  • Discussion of the role of RNA processing and RNA-binding proteins.

Main Results:

  • Identification of new genes contributing to ALS, reinforcing its overlap with FTLD.
  • Mutations in TDP-43 and FUS/TLS, and C9orf72 hexanucleotide expansions are common causes.
  • Evidence suggests disruption of RNA processing is a shared pathogenic pathway.

Conclusions:

  • ALS and FTLD converge in pathogenic pathways that disrupt RNA processing regulation.
  • RNA-binding proteins like TDP-43, FUS/TLS, and C9orf72 play critical roles in the shared pathogenesis.
  • This understanding opens new avenues for research into these related neurodegenerative disorders.