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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.
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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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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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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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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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Updated: Nov 8, 2025

Profiling of Permethylated Mucin O-glycans Using Matrix-assisted Laser Desorption/Ionization Time-of-flight Mass Spectrometry
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Update in the Mucopolysaccharidoses.

Kim L McBride1, Kevin M Flanigan2

  • 1The Center for Cardiovascular Research and the Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital; and the Ohio State University, Columbus, OH; Department of Pediatrics, the Ohio State University, Columbus, OH.

Seminars in Pediatric Neurology
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Summary

Mucopolysaccharidoses (MPS) are genetic disorders causing enzyme deficiencies. Gene therapy shows promise for treating neurological symptoms, but early diagnosis through newborn screening is crucial for effective treatment.

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Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Mucopolysaccharidoses (MPS) are a group of rare genetic disorders.
  • Characterized by enzyme deficiencies leading to glycosaminoglycan accumulation in lysosomes.
  • Results in multisystemic disease with significant neurological impact.

Purpose of the Study:

  • To review the current state of therapeutic advances for MPS disorders.
  • To highlight the potential of gene therapy for addressing neuronopathic features.
  • To emphasize the importance of early disease detection.

Main Methods:

  • Review of existing literature on MPS therapies.
  • Focus on gene therapy approaches, particularly adeno-associated virus vectors.
  • Discussion of diagnostic strategies including newborn screening.

Main Results:

  • Enzyme replacement therapies have shown success but do not adequately treat neurological aspects.
  • Gene therapy, especially CNS-targeted AAV vectors, presents a promising avenue for neuronopathic MPS.
  • Early identification and intervention are critical for improving therapeutic outcomes.

Conclusions:

  • Neuronopathic MPS remains a significant challenge despite therapeutic progress.
  • Gene therapy offers a potential breakthrough for treating the neurological manifestations of MPS.
  • Implementing newborn screening is essential for timely diagnosis and treatment initiation.