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Related Concept Videos

Gene Therapy00:59

Gene Therapy

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Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be...
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Proteoglycans01:05

Proteoglycans

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Glycans, a class of complex heterogeneous molecules, can be covalently attached to proteins to form glycosylated proteins that regulate various physiological and pathological processes. Glycosylated proteins or glycoproteins comprise N-linked and O-linked oligosaccharides. O-glycosylation is the most common type of protein glycosylation. Here, glycans attach to the oxygen atom of the hydroxyl groups of Serine or Threonine residues. O-linked glycosylation occurs later in protein processing,...
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Lysosomal Hydrolases01:22

Lysosomal Hydrolases

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Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
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Glycosaminoglycans01:23

Glycosaminoglycans

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Glycosaminoglycans (GAGs), also known as mucopolysaccharides, are long and linear polymers comprising of specific repeating disaccharides - the amino sugar that can be N-acetylglucosamine or N-acetylgalactosamine, and a uronic acid that is usually glucuronic acid or iduronic acid.
GAGS are found in the extracellular matrix of vertebrates, invertebrates, and bacteria. Due to their polar nature they attract water, and serve as excellent lubricants or shock absorbers in an animal body.
Hyaluronic...
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Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
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iPS Cell Differentiation01:22

iPS Cell Differentiation

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The ability of induced pluripotent stem cells or iPSCs to differentiate into most body cell types has stimulated repair and regenerative medicine research over the past few decades. iPSC-derived blood cells, hepatocytes, beta islet cells, cardiomyocytes, neurons, and other cell types can repair injuries or regenerate damaged tissue in diseases such as diabetes and neurodegenerative disorders.
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Related Experiment Video

Updated: Oct 31, 2025

Metabolic Glycoengineering of Sialic Acid Using N-acyl-modified Mannosamines
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Mucopolysaccharidoses type I gene therapy.

Sarah C Hurt1,2, Patricia I Dickson2,3, David T Curiel1

  • 1Cancer Biology Division, Department of Radiation Oncology, Washington University School of Medicine, St. Louis, Missouri, USA.

Journal of Inherited Metabolic Disease
|June 30, 2021
PubMed
Summary

Gene therapy for Mucopolysaccharidoses type I (MPS I) explores novel adenoviral vectors and CRISPR/Cas9 to overcome limitations of adeno-associated viral (AAV) vectors, addressing safety and efficacy concerns for this inherited metabolic disease.

Keywords:
CRISPRadenovirusgene editinggene therapymucopolysaccharidosis type I

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CRISPR/Cas9-mediated Targeted Integration In Vivo Using a Homology-mediated End Joining-based Strategy
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CRISPR/Cas9-mediated Targeted Integration In Vivo Using a Homology-mediated End Joining-based Strategy
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Area of Science:

  • Biochemistry
  • Genetics
  • Molecular Biology

Background:

  • Mucopolysaccharidoses type I (MPS I) is an inherited metabolic disorder caused by alpha-L-iduronidase (IDUA) enzyme deficiency, leading to lysosomal glycosaminoglycan accumulation.
  • Gene therapy is a key research area for MPS I, with various vectors investigated for IDUA gene delivery.
  • Adeno-associated viral (AAV) vectors show promise but face safety concerns due to recent clinical trial incidents.

Purpose of the Study:

  • To evaluate alternative gene therapy strategies for MPS I.
  • To address the limitations and safety concerns associated with current AAV vector-based gene therapies.
  • To explore the potential of modified adenoviral vectors combined with gene editing technologies for MPS I treatment.

Main Methods:

  • Investigating modified adenoviral vectors engineered for vascular endothelium targeting to reduce hepatotoxicity.
  • Exploring the synergistic potential of combining these modified adenoviral vectors with CRISPR/Cas9 gene editing technology.
  • Reviewing existing studies on AAV vector efficacy and safety in the context of MPS I.

Main Results:

  • Adenoviral vectors, modified for targeted delivery, present a potentially safer alternative to AAV vectors.
  • The combination of targeted adenoviral vectors and CRISPR/Cas9 offers a novel approach to gene editing for MPS I.
  • Safety concerns with AAV vectors necessitate the exploration of alternative delivery systems for MPS I gene therapy.

Conclusions:

  • Modified adenoviral vectors represent a promising avenue for MPS I gene therapy, potentially mitigating risks associated with AAV vectors.
  • The integration of gene editing technologies like CRISPR/Cas9 with advanced viral vectors could enhance therapeutic efficacy and safety for MPS I.
  • Further research is warranted to validate the safety and effectiveness of these novel approaches in treating MPS I.