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CRISPR01:59

CRISPR

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Genome editing technologies allow scientists to modify an organism’s DNA via the addition, removal, or rearrangement of genetic material at specific genomic locations. These types of techniques could potentially be used to cure genetic disorders such as hemophilia and sickle cell anemia. One popular and widely used DNA-editing research tool that could lead to safe and effective cures for genetic disorders is the CRISPR-Cas9 system. CRISPR-Cas9 stands for Clustered Regularly Interspaced...
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CRISPR/Cas9 Genome Editing01:28

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The CRISPR-Cas system serves as a bacterial defense mechanism against invading genetic elements such as viruses and plasmids, forming the foundation for its adaptation as a powerful genome-editing tool. Originally discovered in prokaryotes, this system has been repurposed to revolutionize genetic engineering across a wide range of organisms, including plants, animals, and humans. The core component, Cas9, is an endonuclease derived from Streptococcus pyogenes, capable of introducing...
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Related Experiment Video

Updated: Dec 22, 2025

Enhanced Genome Editing with Cas9 Ribonucleoprotein in Diverse Cells and Organisms
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Enhanced Genome Editing with Cas9 Ribonucleoprotein in Diverse Cells and Organisms

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CRISPR/Cas9 Editing for Gaucher Disease Modelling.

Eleonora Pavan1, Maximiliano Ormazabal1,2, Paolo Peruzzo1

  • 1Regional Coordinator Centre for Rare Diseases, Academic Hospital of Udine, 33100 Udine, Italy.

International Journal of Molecular Sciences
|May 9, 2020
PubMed
Summary

Researchers developed new cellular models for Gaucher disease (GD) using CRISPR/Cas9. These models mimic GD

Keywords:
CRISPR/Cas9Gaucher diseaseacid β-glucosidasecellular modelhigh-throughput drug screeningsneuroinflammationunfolded protein responseα-synuclein

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Area of Science:

  • Genetics
  • Neuroscience
  • Cell Biology

Background:

  • Gaucher disease (GD) is a lysosomal storage disorder caused by mutations in the acid β-glucosidase gene (GBA1).
  • GBA1 mutations are a primary genetic risk factor for Parkinson's disease.
  • Neuroinflammation is implicated in the neurological aspects of GD, but the mechanisms are unclear.

Purpose of the Study:

  • To create isogenic cellular models of Gaucher disease using CRISPR/Cas9 technology.
  • To investigate the molecular mechanisms underlying neuroinflammation in Gaucher disease.
  • To establish tools for Gaucher disease research and drug screening.

Main Methods:

  • Utilized CRISPR/Cas9 gene editing to modify GBA1 in human THP-1 (monocyte) and U87 (glial) cell lines.
  • Generated isogenic Gaucher disease models in both cell types.
  • Analyzed GBA1 expression, enzyme activity, substrate accumulation, protein processing, and inflammatory markers.

Main Results:

  • Edited cell lines exhibited reduced GBA1 activity (<1%) and significant substrate accumulation.
  • GBA1 mutant U87 cells showed ER retention, proteasomal degradation of the mutant enzyme, and triggered unfolded protein response (UPR).
  • U87 GBA1 mutant cells displayed increased interleukin-1β production, alpha-synuclein accumulation, and cell death.

Conclusions:

  • Developed reliable and accessible isogenic cellular models for Gaucher disease.
  • These models demonstrate neuroinflammatory features relevant to GD pathophysiology.
  • The models are suitable for studying Gaucher disease mechanisms and for high-throughput drug screening.