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Therapeutic strategies to ameliorate lysosomal storage disorders - a focus on Gaucher disease

Academic Article
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Overview

related to degree

  • Sawkar, Anupama, Ph.D. in Chemistry, Scripps Research 2000 - 2005

authors

  • Sawkar, Anupama
  • D'Haeze, W.
  • Kelly, Jeffery

publication date

  • May 2006

journal

  • Cellular and Molecular Life Sciences  Journal

abstract

  • The lysosomal storage disorders encompass more than 40 distinct diseases, most of which are caused by the deficient activity of a lysosomal hydrolase leading to the progressive, intralysosomal accumulation of substrates such as sphingolipids, mucopolysaccharides, and oligosaccharides. Here, we primarily focus on Gaucher disease, one of the most prevalent lysosomal storage disorders, which is caused by an impaired activity of glucocerebrosidase, resulting in the accumulation of the glycosphingolipid glucosylceramide in the lysosomes. Enzyme replacement and substrate reduction therapies have proven effective for Gaucher disease cases without central nervous system involvement. We discuss the promise of chemical chaperone therapy to complement established therapeutic strategies for Gaucher disease. Chemical chaperones are small molecules that bind to the active site of glucocerebrosidase variants stabilizing their three-dimensional structure in the endoplasmic reticulum, likely preventing their endoplasmic reticulum-associated degradation and allowing their proper trafficking to the lysosome where they can degrade accumulated substrate to effectively ameliorate Gaucher disease.

subject areas

  • Gaucher Disease
  • Genetic Therapy
  • Glucosylceramides
  • Glycosphingolipids
  • Humans
  • Lysosomal Storage Diseases
  • Molecular Chaperones
  • Mutation
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Research

keywords

  • chemical chaperone therapy
  • enzyme replacement therapy
  • gene therapy
  • glucocerebrosidase
  • glucosylceramide
  • lysosomal hydrolase
  • protein folding
  • substrate reduction therapy
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Identity

International Standard Serial Number (ISSN)

  • 1420-682X

Digital Object Identifier (DOI)

  • 10.1007/s00018-005-5437-0

PubMed ID

  • 16568247
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Additional Document Info

start page

  • 1179

end page

  • 1192

volume

  • 63

issue

  • 10

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