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Publication Detail
Current therapies for the soluble lysosomal forms of neuronal ceroid lipofuscinosis.
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Journal Article
  • Authors:
    Wong AMS, Rahim AA, Waddington SN, Cooper JD
  • Publication date:
  • Pagination:
    1484, 1488
  • Journal:
    Biochem Soc Trans
  • Volume:
  • Issue:
  • Status:
  • Country:
  • PII:
  • Language:
  • Keywords:
    Animals, Child, Endocytosis, Enzyme Replacement Therapy, Genetic Therapy, Humans, Lysosomes, Membrane Proteins, Mice, Molecular Chaperones, Mutation, Neuronal Ceroid-Lipofuscinoses, Receptor, IGF Type 2, Stem Cell Transplantation
The NCLs (neuronal ceroid lipofuscinoses) are the most common inherited paediatric neurodegenerative disorder. Although genetically distinct, NCLs can be broadly divided into two categories: one in which the mutation results in a defect in a transmembrane protein, and the other where the defect lies in a soluble lysosomal enzyme. A number of therapeutic approaches are applicable to the soluble lysosomal forms of NCL based on the phenomenon of cross-correction, whereby the ubiquitously expressed mannose 6-phosphate/IGF (insulin-like growth factor) II receptor provides an avenue for endocytosis, trafficking and lysosomal processing of extracellularly delivered enzyme. The present review discusses therapeutic utilization of cross-correction by enzyme-replacement therapy, gene therapy and stem cell therapy for the NCLs, along with an overview of the recent progress in translating these treatments into the clinic.
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