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Related Concept Videos

RNA Splicing01:32

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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...
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Nuclear protein sorting regulates nucleus composition and gene expression, crucial for determining the fate of a eukaryotic cell. Hence, the entry and exit of molecules across the nuclear envelope is a tightly controlled process. Nuclear protein sorting can be inhibited by one of the following ways: 1) masking cargo signal sequences, 2) modifying the nuclear receptor's affinity for cargo, 3) controlling the nuclear pore size, 4) retaining the cargo during its transit to the cytosol or the...
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Alternative RNA Splicing02:18

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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.
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Related Experiment Video

Updated: Apr 6, 2026

ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast
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SnapShot: Spliceosome Dynamics III.

Markus C Wahl1, Reinhard Lührmann2

  • 1Laboratory of Structural Biochemistry, Freie Universität Berlin, Takustraße 6, 14195 Berlin, Germany.

Cell
|August 2, 2015
PubMed
Summary
This summary is machine-generated.

Spliceosome malfunctions due to mutations can cause diseases. Therapies targeting splicing, such as small molecules and antisense oligonucleotides, show promise and are advancing in clinical trials.

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Area of Science:

  • Molecular Biology
  • Genetics
  • Drug Discovery

Background:

  • The spliceosome, a complex molecular machine, regulates gene expression through splicing.
  • Mutations in splicing factors or regulatory sequences disrupt spliceosome function.
  • Such disruptions are implicated in human diseases, including cancers and inherited disorders.

Purpose of the Study:

  • To explore the therapeutic potential of targeting spliceosome dynamics.
  • To review current strategies for modulating splicing events for disease treatment.

Main Methods:

  • Review of literature on spliceosome mutations and their disease associations.
  • Analysis of therapeutic approaches including small molecule modulators and antisense oligonucleotides.
  • Examination of the clinical trial status of splicing-modulating agents.

Main Results:

  • Identified a strong link between spliceosome dysfunction and various human pathologies.
  • Highlighted the potential of small molecules and antisense oligonucleotides as therapeutic agents.
  • Noted the progression of several splicing-modulating therapies into clinical trials.

Conclusions:

  • Targeting spliceosome dynamics offers a promising therapeutic avenue for diseases caused by splicing defects.
  • Further development of small molecule modulators and antisense oligonucleotides is crucial for advancing these treatments.