CIDeRplusGeneral Information:
| Id: | 14,887 (click here to show other Interactions for entry) |
| Diseases: |
Ciliopathy
Usher syndrome |
| Mus musculus | |
| article | |
| Reference: | Kowalewski B et al.(2012) Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice Proc Natl Acad Sci U S A 109 [PMID: 22689975] |
Interaction Information:
| Comment | Deficiency of glycosaminoglycan (GAG) degradation causes a subclass of lysosomal storage disorders called mucopolysaccharidoses (MPSs), many of which present with severe neuropathology. The study shows that the lysosomal arylsulfatase G (ARSG) is the long-sought glucosamine-3-O-sulfatase required to complete the degradation of heparan sulfate. ARSG is essential for the catabolism of heparan sulfate, as evidenced by the resulting heparan sulfate storage and MPS disease pathology in Arsg-deficient mice. |
|
Formal Description Interaction-ID: 139611 |
|