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

Sulphamidase.

D S Anson1, J Bielicki

  • 1Department of Chemical Pathology, Women's and Children's Hospital, North Adelaide, Australia. danson@medicine.adelaide.edu.au

The International Journal of Biochemistry & Cell Biology
|May 4, 1999
PubMed
Summary
This summary is machine-generated.

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

Oral amoxicillin and amoxicillin-clavulanic acid: properties, indications and usage.

Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases·2019
Same author

Guidance on reporting multivariable regression models in CMI.

Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases·2019
Same author

Optimizing design of research to evaluate antibiotic stewardship interventions: consensus recommendations of a multinational working group.

Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases·2019
Same author

The quality of studies evaluating antimicrobial stewardship interventions: a systematic review.

Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases·2018
Same author

The relationship between Gram-negative colonization and bloodstream infections in neonates: a systematic review and meta-analysis.

Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases·2017
Same author

Risk in the "Red Zone": Outcomes for Children Admitted to Ebola Holding Units in Sierra Leone Without Ebola Virus Disease.

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America·2017
Same journal

Corrigendum to "Sodium butyrate down-regulation of indoleamine 2, 3-dioxygenase at the transcriptional and post-transcriptional levels" [Int. J. Biochem. Cell Biol. 42 (2010) 1840-1846].

The international journal of biochemistry & cell biology·2026
Same journal

Whole-brain spatial metabolomics reveals metabolic gradient shifts in a murine glioma model following boron neutron capture therapy (130 characters).

The international journal of biochemistry & cell biology·2026
Same journal

LCN2 modulates Th17/Treg balance in vitro and is associated with an adaptive response to intestinal ischemia-reperfusion injury under Hmox1-deficient conditions.

The international journal of biochemistry & cell biology·2026
Same journal

Chloroquine modulates the redox-sensitive signalling via inhibiting the AMPK-ULK1 under LPS induced state in murine splenic macrophages.

The international journal of biochemistry & cell biology·2026
Same journal

The vicious cycle of hyperglycemia and oxidative stress: Novel mechanistic insights into a pathogenic alliance.

The international journal of biochemistry & cell biology·2026
Same journal

Fibroblast growth factors (FGF) in the pathogenesis and treatment of inflammatory bowel diseases (IBD): An overview.

The international journal of biochemistry & cell biology·2026
See all related articles

Sulphamidase deficiency causes Sanfilippo syndrome (MPS IIIA) due to heparan sulfate buildup. Researchers isolated the sulphamidase gene, enabling better diagnosis and treatment for this rare genetic disorder.

Area of Science:

  • Biochemistry
  • Genetics
  • Lysosomal Storage Diseases

Background:

  • Sanfilippo syndrome, specifically mucopolysaccharidosis type IIIA (MPS IIIA), is caused by a deficiency in the lysosomal enzyme sulphamidase.
  • This deficiency leads to the accumulation of glycosaminoglycan (GAG) heparan sulfate (HS) within lysosomes.
  • Sulphamidase is a unique N-sulphatase crucial for GAG degradation, distinguishing it from other O-sulphatases.

Purpose of the Study:

  • To characterize sulphamidase and its role in MPS IIIA.
  • To enable advancements in the diagnosis and treatment of MPS IIIA.
  • To facilitate further research into the molecular mechanisms of the disease.

Main Methods:

  • Purification of sulphamidase from human liver.
  • Amino-terminal sequencing of the purified sulphamidase protein.

Related Experiment Videos

  • Isolation of complementary DNA (cDNA) and genomic clones for sulphamidase.

    • Main Results:

    • Successful purification and sequencing of human sulphamidase.
    • Generation of molecular tools (cDNA and genomic clones) for sulphamidase.
    • Foundation laid for further diagnostic and therapeutic development.

    Conclusions:

    • The molecular cloning of sulphamidase is a critical step towards understanding and managing MPS IIIA.
    • These findings pave the way for improved diagnostic methods.
    • Further research can now focus on developing targeted treatments for sulphamidase deficiency.