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Related Concept Videos

Glycosaminoglycans01:23

Glycosaminoglycans

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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...
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Proteoglycans01:05

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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,...
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Lysosomal Hydrolases01:22

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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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Oligosaccharide Assembly01:24

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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.
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Biosynthesis of Polysaccharides01:26

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Polysaccharides such as glycogen and starch are synthesized from nucleoside diphosphate sugars, primarily uridine diphosphate glucose (UDPG) and adenosine diphosphate glucose (ADPG). These activated glucose donors act as key intermediates in carbohydrate metabolism and biosynthesis. UDPG primarily involves glycogen synthesis in animals and many bacteria, while ADPG plays a fundamental role in starch synthesis in plants and certain bacteria.UDPG is formed when glucose-1-phosphate reacts with...
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Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
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Related Experiment Video

Updated: May 5, 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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Mucopolysaccharidoses.

Rolando Cimaz1, Francesco La Torre

  • 1Department of Pediatrics, Rheumatology Unit, AOU Meyer Hospital, Viale Pieraccini, no. 24, 50139, Firenze, Italy, r.cimaz@meyer.it.

Current Rheumatology Reports
|November 23, 2013
PubMed
Summary
This summary is machine-generated.

Mucopolysaccharidoses (MPS) are rare genetic disorders affecting glycosaminoglycan breakdown. Increased rheumatologist awareness is crucial for timely diagnosis and treatment of these progressive musculoskeletal conditions.

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Area of Science:

  • Biochemistry
  • Genetics
  • Rheumatology

Background:

  • Mucopolysaccharidoses (MPS) are rare genetic disorders resulting from deficiencies in lysosomal enzymes crucial for glycosaminoglycan (GAG) degradation.
  • Incomplete GAG breakdown leads to progressive accumulation in tissues, causing diverse phenotypes from severe to attenuated, with musculoskeletal manifestations common in all forms.
  • Skeletal and joint abnormalities are particularly prominent in attenuated MPS phenotypes, yet diagnostic delays are frequent, especially for milder disease forms.

Purpose of the Study:

  • To highlight the importance of increasing awareness of MPS among rheumatologists.
  • To emphasize the need for timely diagnosis and treatment initiation for MPS disorders, particularly attenuated forms.
  • To underscore the impact of diagnostic delays on patient outcomes for chronic, progressive conditions.

Main Methods:

  • Review of existing literature on MPS pathophysiology and clinical manifestations.
  • Analysis of common diagnostic challenges and delays in MPS patients.
  • Emphasis on the role of rheumatologists in identifying and managing MPS-related musculoskeletal symptoms.

Main Results:

  • MPS disorders are characterized by GAG accumulation due to enzyme deficiencies, leading to significant musculoskeletal issues.
  • Attenuated MPS phenotypes often present with subtle or progressive skeletal and joint abnormalities, contributing to diagnostic delays.
  • Despite the chronic and debilitating nature of untreated MPS, effective treatments are now available for many types.

Conclusions:

  • Early recognition of MPS by rheumatologists is critical for improving patient outcomes.
  • Addressing diagnostic delays can facilitate access to available treatments for MPS.
  • Enhanced understanding of MPS among healthcare professionals can mitigate the long-term impact of these rare genetic disorders.