Ontology highlight
ABSTRACT:
SUBMITTER: Metcalf JA
PROVIDER: S-EPMC2775472 | biostudies-literature | 2009 Jul
REPOSITORIES: biostudies-literature
Metcalf Jason A JA Zhang Yanming Y Hilton Matthew J MJ Long Fanxin F Ponder Katherine P KP
Molecular genetics and metabolism 20090325 3
Mucopolysaccharidosis VII (MPS VII) is a lysosomal storage disease in which deficiency in beta-glucuronidase results in glycosaminoglycan (GAG) accumulation in and around cells, causing shortened long bones through mechanisms that remain largely unclear. We demonstrate here that MPS VII mice accumulate massive amounts of the GAG chondroitin-4-sulfate (C4S) in their growth plates, the cartilaginous region near the ends of long bones responsible for growth. MPS VII mice also have only 60% of the n ...[more]