Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Heparan sulfate Ndst1 gene function variably regulates multiple signaling pathways during mouse development.

Srinivas R Pallerla1, Yi Pan, Xin Zhang

  • 1Institut für Allgemeine Zoologie und Genetik, Westfälische Wilhelms-Universität Münster, Münster, Germany.

Developmental Dynamics : an Official Publication of the American Association of Anatomists
|December 22, 2006
PubMed
Summary

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Emerging evidence for a cooperative pathway of Hedgehog release.

Nature reviews. Molecular cell biology·2026
Same author

Direct or indirect: the crucial role of N-palmitate in hedgehog signaling.

Biochemical Society transactions·2026
Same author

Tumour acidosis remodels the glycocalyx to control lipid scavenging and ferroptosis.

Nature cell biology·2026
Same author

GlycoRNA complexed with heparan sulfate regulates VEGF-A signalling.

Nature·2026
Same author

Epithelial Heparan Sulfate Promotes <i>Staphylococcus aureus</i> Corneal Infection by Inhibiting Cathelicidins.

Proteoglycan research·2026
Same author

Reply.

Ophthalmology·2025

Disrupting heparan sulfate (HS) synthesis in mice via Ndst1 mutations caused severe developmental defects, including neural tube fusion issues and skeletal abnormalities. These findings suggest HS synthesis defects contribute to human congenital malformations.

Area of Science:

  • Developmental Biology
  • Molecular Biology
  • Genetics

Background:

  • Heparan sulfate (HS) synthesis is crucial for vertebrate development, influencing growth factors and morphogens.
  • Mutations in HS-generating enzymes lead to complex developmental malformations.
  • Previous studies identified severe forebrain and skull defects in Ndst1 mutant mice.

Purpose of the Study:

  • To further characterize molecular mechanisms behind frontonasal dysplasia in Ndst1 mutant embryos.
  • To identify additional malformations associated with Ndst1 disruption.
  • To investigate the role of HS-binding proteins in Ndst1 mutant phenotypes.

Main Methods:

  • Targeted disruption of the heparan sulfate-generating enzyme GlcNAc N-deacetylase/GlcN N-sulfotransferase 1 (Ndst1) in mice.

Related Experiment Videos

  • Detailed phenotypic analysis of Ndst1 mutant embryos.
  • Assessment of fibroblast growth factor, Hedgehog, and Wnt signaling pathways.

    • Main Results:

    • Ndst1 mutant embryos exhibited frontonasal dysplasia, impaired spinal and cranial neural tube fusion, and skeletal abnormalities.
    • Impaired function of fibroblast growth factor, Hedgehog, and Wnt signaling pathways were observed.
    • These findings link HS synthesis defects to a broader spectrum of developmental abnormalities.

    Conclusions:

    • Defects in HS synthesis, specifically through Ndst1, lead to a range of developmental malformations.
    • Impaired HS-dependent signaling pathways contribute to the observed phenotypes.
    • HS synthesis defects may underlie multifactorial congenital developmental defects in humans, including neural tube defects.