Lysosomal storage diseases

@article{Platt2018LysosomalSD,
  title={Lysosomal storage diseases},
  author={Frances M. Platt and Alessandra d’Azzo and Beverly L. Davidson and Elizabeth F. Neufeld and Cynthia J. Tifft},
  journal={Nature Reviews Disease Primers},
  year={2018},
  volume={4},
  pages={1-25}
}
Lysosomal storage diseases (LSDs) are a group of over 70 diseases that are characterized by lysosomal dysfunction, most of which are inherited as autosomal recessive traits. These disorders are individually rare but collectively affect 1 in 5,000 live births. LSDs typically present in infancy and childhood, although adult-onset forms also occur. Most LSDs have a progressive neurodegenerative clinical course, although symptoms in other organ systems are frequent. LSD-associated genes encode… 

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Autophagy and Lysosome Storage Disorders.

  • H. RenGuanghui Wang
  • Biology, Chemistry
    Advances in experimental medicine and biology
  • 2020
The modulation of autophagy has been considered as novel therapeutic approach for LSDs, which can result in multiple systemic damages, including the nervous system, skeletal system and reticuloendothelial system, especially in the early stages of the disease.

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Non-mammalian models of LSDs are highlighted, focusing specifically on the zebrafish, a vertebrate model organism that shares remarkable genetic and metabolic similarities with mammals while also conferring unique advantages such as optical transparency and amenability toward high-throughput applications.

Inherited disorders of lysosomal membrane transporters.

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Nanotechnology-based approaches for treating lysosomal storage disorders, a focus on Fabry disease.

The present review summarizes distinct approaches followed by the group and collaborators on the use of nanotechnology-based drug delivery systems (DDS) for restoring lysosomal enzymes in disease-affected cells.
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