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 Concept Videos

Glycosaminoglycans01:23

Glycosaminoglycans

4.9K
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...
4.9K
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

3.8K
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,...
3.8K

You might also read

Related Articles

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

Sort by
Same author

Disease Outcomes in Boys with <i>ABCD1</i> Variants Identified by Newborn Screening for X-ALD.

medRxiv : the preprint server for health sciences·2026
Same author

CSF GAG non-reducing ends in MPS IH after peripheral and brain-penetrating therapies: A model comparing IV non-targeted ERT and HCT.

Molecular therapy. Advances·2026
Same author

Promoting donor microglial replacement through augmented conditioning or radiation sensitivity.

Molecular therapy : the journal of the American Society of Gene Therapy·2026
Same author

Base Editing of <i>HBG1</i> and <i>HBG2</i> Promoters for Sickle Cell Disease.

The New England journal of medicine·2026
Same author

Beyond Detection: Comparing State-Based Newborn Screening Methods for Effective Mucopolysaccharidosis I Diagnosis.

International journal of neonatal screening·2026
Same author

G-CSF for Mobilizing CD34<sup>+</sup> Cells in Individuals With SCD: A Word of Caution.

American journal of hematology·2026

Related Experiment Video

Updated: Jul 17, 2025

Quantitative Measurement of Intrathecally Synthesized Proteins in Mice
08:23

Quantitative Measurement of Intrathecally Synthesized Proteins in Mice

Published on: November 29, 2019

11.0K

Hurler Syndrome Glycosaminoglycans Decrease in Cerebrospinal Fluid without Brain-Targeted Therapy.

Troy C Lund1, Elizabeth Braunlin2, Lynda E Polgreen3

  • 1Department of Pediatrics, Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy, University of Minnesota, Minneapolis, Minnesota, USA.

Annals of Neurology
|September 7, 2023
PubMed
Summary
This summary is machine-generated.

Novel Hurler syndrome therapies aim to degrade GAG in the brain. However, decreased cerebrospinal fluid GAG in patients receiving standard enzyme replacement therapy questions its use as a marker for blood-brain barrier penetration.

More Related Videos

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
07:08

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species

Published on: February 27, 2018

9.6K
Single Synapse Indicators of Glutamate Release and Uptake in Acute Brain Slices from Normal and Huntington Mice
08:27

Single Synapse Indicators of Glutamate Release and Uptake in Acute Brain Slices from Normal and Huntington Mice

Published on: March 11, 2020

6.2K

Related Experiment Videos

Last Updated: Jul 17, 2025

Quantitative Measurement of Intrathecally Synthesized Proteins in Mice
08:23

Quantitative Measurement of Intrathecally Synthesized Proteins in Mice

Published on: November 29, 2019

11.0K
Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
07:08

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species

Published on: February 27, 2018

9.6K
Single Synapse Indicators of Glutamate Release and Uptake in Acute Brain Slices from Normal and Huntington Mice
08:27

Single Synapse Indicators of Glutamate Release and Uptake in Acute Brain Slices from Normal and Huntington Mice

Published on: March 11, 2020

6.2K

Area of Science:

  • Biochemistry
  • Neuroscience
  • Genetics

Background:

  • Hurler syndrome is a rare genetic disorder causing neurodegeneration due to glycosaminoglycan (GAG) accumulation.
  • Novel therapies aim to cross the blood-brain barrier (BBB) to degrade GAG and halt neurodegeneration.
  • Cerebrospinal fluid (CSF) GAG levels are often used to infer BBB penetration of therapies, but this assumption needs validation.

Purpose of the Study:

  • To investigate whether standard enzyme replacement therapy (ERT), which does not penetrate the BBB, affects CSF GAG levels.
  • To evaluate the utility of CSF GAG as a biomarker for BBB penetration in Hurler syndrome.

Main Methods:

  • A comparative study of pre-transplant CSF GAG levels.
  • Comparison between treatment-naïve Hurler syndrome patients (n=19) and those receiving standard non-BBB penetrating ERT (n=12).

Main Results:

  • CSF GAG levels were significantly lower in patients receiving standard ERT compared to treatment-naïve patients.
  • This finding challenges the assumption that decreased CSF GAG solely indicates BBB penetration of GAG-degrading therapies.

Conclusions:

  • Standard ERT significantly reduces CSF GAG levels, independent of BBB penetration.
  • Future research should focus on comparing GAG reduction in CSF between standard ERT and novel BBB-penetrating therapies to accurately assess treatment efficacy and BBB targeting.