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

Sulfatases and human disease.

Graciana Diez-Roux1, Andrea Ballabio

  • 1Telethon Institute of Genetics and Medicine (TIGEM), Department of Pediatrics, Federico II University, Naples 80131, Italy. diezroux@tigem.it

Annual Review of Genomics and Human Genetics
|August 30, 2005
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

Colonic Continuity After Splenic Flexure Resection: Does the Orientation of the Anastomosis Matter? A Retrospective Cohort Study.

Annali italiani di chirurgia·2026
Same author

TRPML1 agonists synergize with enzyme replacement therapy in fibroblasts from Pompe disease patients.

Journal of translational medicine·2026
Same author

HKDC1 contributes to aberrant lysosome-mitochondria contact in Niemann-Pick disease type C.

bioRxiv : the preprint server for biology·2026
Same author

Ninth BHD International Symposium: Advancing research through global collaboration.

Cell stress & chaperones·2026
Same author

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.

Genetics in medicine open·2026
Same author

Author Correction: Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition.

Nature cell biology·2026

Sulfatases are vital proteins for human metabolism, with deficiencies causing severe diseases. Research explores sulfatase evolution, function, and therapeutic strategies for these genetic disorders.

Area of Science:

  • Biochemistry
  • Genetics
  • Human Metabolism

Background:

  • Sulfatases are conserved enzymes crucial for cleaving sulfate esters.
  • Deficiencies in sulfatases lead to at least eight distinct human monogenic diseases.
  • Proper sulfatase activity depends on a unique posttranslational modification involving sulfatase modifying factor 1 (SUMF1).

Purpose of the Study:

  • To review the evolutionary history of the sulfatase gene family.
  • To elucidate the role of sulfatases in human metabolic pathways.
  • To discuss emerging therapeutic approaches for sulfatase deficiencies.

Main Methods:

  • Literature review of sulfatase gene evolution.
  • Analysis of sulfatase function in human metabolism.
  • Survey of current and future therapeutic developments for sulfatase-related disorders.

Related Experiment Videos

Main Results:

  • Sulfatases play a fundamental role in diverse metabolic processes.
  • Mutations in SUMF1 impairing posttranslational modification cause Multiple Sulfatase Deficiency (MSD).
  • Significant progress has been made in understanding the genetic basis of sulfatase deficiencies.

Conclusions:

  • Sulfatases are essential enzymes with critical roles in human health.
  • Understanding sulfatase evolution and function is key to treating related diseases.
  • New therapeutic strategies offer hope for patients with sulfatase deficiencies.