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Self-eating in skeletal development: implications for lysosomal storage disorders.

Abstract
Macroautophagy (a.k.a. autophagy) is a cellular process aimed at the recycling of proteins and organelles that is achieved when autophagosomes fuse with lysosomes. Accordingly, lysosomal dysfunctions are often associated with impaired autophagy. We demonstrated that inactivation of the sulfatase modifying factor 1 gene (Sumf1), a gene mutated in multiple sulfatase deficiency (MSD), causes glycosaminoglycans (GAGs) to accumulate in lysosomes, which in turn disrupts autophagy. We utilized a murine model of MSD to study how impairment of this process affects chondrocyte viability and thus skeletal development.
AuthorsCarmine Settembre, Emilio Arteaga-Solis, Andrea Ballabio, Gerard Karsenty
JournalAutophagy (Autophagy) Vol. 5 Issue 2 Pg. 228-9 (Feb 2009) ISSN: 1554-8635 [Electronic] United States
PMID19029806 (Publication Type: Journal Article)
Chemical References
  • Oxidoreductases Acting on Sulfur Group Donors
  • Sumf1 protein, mouse
  • Sulfatases
Topics
  • Animals
  • Autophagy
  • Bone Development
  • Chondrocytes (metabolism, ultrastructure)
  • Lysosomal Storage Diseases (pathology)
  • Mice
  • Mice, Knockout
  • Oxidoreductases Acting on Sulfur Group Donors
  • Sulfatases (deficiency, metabolism)

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