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Related Concept Videos

Glycosaminoglycans01:23

Glycosaminoglycans

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...
Proteoglycans01:05

Proteoglycans

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,...
Drugs for Peptic Ulcer Disease: Sucralfate as Mucosal Protective Agents01:24

Drugs for Peptic Ulcer Disease: Sucralfate as Mucosal Protective Agents

In the intricate landscape of the gastric lumen, excessive acid secretion disrupts the natural defense mechanisms, weakening the mucus-bicarbonate barrier. This vulnerability allows pepsin to infiltrate epithelial cells, digesting mucosal proteins and triggering erosion, leading to ulcer formation.
In this scenario, mucosal protective agents like sucralfate play an essential role. Sucralfate, a complex of sulfated sucrose and aluminum hydroxide, demonstrates its usefulness in acidic conditions,...
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic sinusitis...
Oligosaccharide Assembly01:24

Oligosaccharide Assembly

Protein glycosylation starts in the ER lumen and continues in the Golgi apparatus. Glycosyltransferases catalyze the addition of sugar molecules or glycosylation of proteins. Usually, these enzymes add sugars to the hydroxyl groups of selected serine or threonine residues to form O-linked glycans or the amino groups of asparagine residues to form N-linked glycans. Different positions on the same polypeptide chain can contain differently linked glycans.
Multiple sugar molecules that may or may...
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

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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Updated: May 26, 2026

Profiling of Permethylated Mucin O-glycans Using Matrix-assisted Laser Desorption/Ionization Time-of-flight Mass Spectrometry
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Profiling of Permethylated Mucin O-glycans Using Matrix-assisted Laser Desorption/Ionization Time-of-flight Mass Spectrometry

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Therapy for the mucopolysaccharidoses.

Vassili Valayannopoulos1, Frits A Wijburg

  • 1Reference Centre for Inherited Metabolic Diseases, Necker-Enfants/Malades Hospital, Paris, France.

Rheumatology (Oxford, England)
|January 3, 2012
PubMed
Summary
This summary is machine-generated.

Advances in understanding mucopolysaccharidoses (MPS) and treatments like enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT) are improving patient outcomes. These therapies offer better quality of life and survival for individuals with MPS disorders.

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Area of Science:

  • Biomedical Science
  • Genetics
  • Pediatric Medicine

Background:

  • Mucopolysaccharidoses (MPS) are a group of rare genetic disorders characterized by the body's inability to properly break down glycosaminoglycans.
  • These disorders lead to progressive multi-systemic complications affecting physical and cognitive health.
  • Recent advancements in understanding MPS pathophysiology have paved the way for improved management strategies.

Purpose of the Study:

  • To review current therapeutic approaches for mucopolysaccharidoses (MPS).
  • To highlight the impact of enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT) on patient outcomes.
  • To discuss the evolving landscape of MPS management.

Main Methods:

  • Review of current literature on MPS treatments.
  • Analysis of data regarding the efficacy of enzyme replacement therapy (ERT) for MPS I, II, and VI.
  • Examination of the role and outcomes of hematopoietic stem cell transplantation (HSCT) in severe MPS I.

Main Results:

  • Enzyme replacement therapy (ERT) is available for MPS I, II, and VI, showing benefits in mobility, respiration, and quality of life.
  • ERT is under development for MPS IV and VII.
  • Hematopoietic stem cell transplantation (HSCT) can preserve cognition and prolong survival in severe MPS I, with ongoing investigations for other MPS types.

Conclusions:

  • Improved understanding and therapeutic interventions, including ERT and HSCT, have significantly enhanced the prognosis for patients with MPS disorders.
  • Multidisciplinary care and regular follow-up are crucial for optimal management.
  • Ongoing research and development promise further improvements in treating these complex genetic conditions.