Secondary lipid accumulation in lysosomal disease

Steven U. Walkley, Marie T. Vanier

Research output: Contribution to journalArticle

114 Citations (Scopus)

Abstract

Lysosomal diseases are inherited metabolic disorders caused by defects in a wide spectrum of lysosomal and a few non-lysosomal proteins. In most cases a single type of primary storage material is identified, which has been used to name and classify the disorders: hence the terms sphingolipidoses, gangliosidoses, mucopolysaccharidoses, glycoproteinoses, and so forth. In addition to this primary storage, however, a host of secondary storage products can also be identified, more often than not having no direct link to the primary protein defect. Lipids - glycosphingolipids and phospholipids, as well as cholesterol - are the most ubiquitous and best studied of these secondary storage materials. While in the past typically considered nonspecific and nonconsequential features of these diseases, newer studies suggest direct links between secondary storage and disease pathogenesis and support the view that understanding all aspects of this sequestration process will provide important insights into the cell biology and treatment of lysosomal disease.

Original languageEnglish (US)
Pages (from-to)726-736
Number of pages11
JournalBiochimica et Biophysica Acta - Molecular Cell Research
Volume1793
Issue number4
DOIs
StatePublished - Apr 2009

Fingerprint

Lipids
Sphingolipidoses
Gangliosidoses
Mucopolysaccharidoses
Glycosphingolipids
Metabolic Diseases
Names
Cell Biology
Phospholipids
Proteins
Cholesterol
Therapeutics

Keywords

  • Bis(monoacylglycero)phosphate
  • Cholesterol
  • Ganglioside
  • Glucosylceramide
  • Glycosphingolipid
  • Lactosylceramide
  • Phospholipid
  • Sphingolipid
  • Sphingomyelin

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology

Cite this

Secondary lipid accumulation in lysosomal disease. / Walkley, Steven U.; Vanier, Marie T.

In: Biochimica et Biophysica Acta - Molecular Cell Research, Vol. 1793, No. 4, 04.2009, p. 726-736.

Research output: Contribution to journalArticle

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