
Journal of Biological Chemistry, Journal Year: 2024, Volume and Issue: unknown, P. 107916 - 107916
Published: Oct. 1, 2024
Language: Английский
Journal of Biological Chemistry, Journal Year: 2024, Volume and Issue: unknown, P. 107916 - 107916
Published: Oct. 1, 2024
Language: Английский
Cells, Journal Year: 2025, Volume and Issue: 14(2), P. 139 - 139
Published: Jan. 18, 2025
Hyaluronan (HA) is a critical component of cell and tissue matrices an important signaling molecule. The enzymes that synthesize process HA, as well the HA receptors through which properties are transmitted, have been identified in extracellular vesicles implicated context-specific processes associated with health disease. goal this review to present comprehensive summary research on its related vesicle biogenesis cellular responses bearing these matrix modulators. When vesicles, assumed be outside sometimes found CD44 or HAS enzyme itself. Hyaluronidases may inside surface via transmembrane domain GPI linkage. implication presenting signals there greater range systemic distribution more complex delivery media than previously thought for secreted hyaluronidase alone. Understanding context offers new diagnostic therapeutic insight.
Language: Английский
Citations
0IntechOpen eBooks, Journal Year: 2025, Volume and Issue: unknown
Published: March 3, 2025
This chapter provides a comprehensive examination of how next-generation sequencing (NGS) technologies are transforming prenatal and neonatal care, particularly in the diagnosis lysosomal diseases (LDs). These rare, inherited conditions caused by defects metabolism. If not detected treated early, they can lead to significant disabilities reduced life expectancy. The specifically focuses on use NGS diagnose screen sphingolipidoses (SLDs) mucopolysaccharidoses (MPSs). It covers molecular pathogenesis, classification, main symptomatology diseases. reviews progress made identifying genes associated with SLDs MPSs cataloging clinically relevant genetic variants. Additionally, it highlights growing adoption for screening institutions such as academic research centers, private healthcare providers, government health agencies. also discusses challenges implementation, regulation, outlines future directions its application medicine.
Language: Английский
Citations
0Journal of Human Genetics, Journal Year: 2025, Volume and Issue: unknown
Published: March 31, 2025
Language: Английский
Citations
0Veterinary Research Communications, Journal Year: 2024, Volume and Issue: unknown
Published: Sept. 30, 2024
Language: Английский
Citations
3Journal of Biological Chemistry, Journal Year: 2024, Volume and Issue: unknown, P. 107916 - 107916
Published: Oct. 1, 2024
Language: Английский
Citations
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