ArticleMolecular genetics and metabolism2009
Mechanism of shortened bones in mucopolysaccharidosis VII.
Article in Molecular genetics and metabolism, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 64 citations in OpenAlex.
- JAK-STAT signaling: molecular mechanism and targeted treatment in dento-maxillofacial abnormalities.International journal of oral science · 2026Review
- Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II.Molecular genetics and metabolism reports · 2023Article
- Growth patterns in patients with mucopolysaccharidosis VII.Molecular genetics and metabolism reports · 2023Article
- MPSI Manifestations and Treatment Outcome: Skeletal Focus.International journal of molecular sciences · 2022Review
- Bone Biomarkers in Mucopolysaccharidoses.International journal of molecular sciences · 2021Review
- Epiphyseal cartilage canal architecture and extracellular matrix remodeling in mucopolysaccharidosis VII dogs at the onset of postnatal growth.Connective tissue research · 2021Article
- Progression of vertebral bone disease in mucopolysaccharidosis VII dogs from birth to skeletal maturity.Molecular genetics and metabolism · 2021Article
- Biomarkers for prediction of skeletal disease progression in mucopolysaccharidosis type I.JIMD reports · 2021Article
- Ultrastructural analysis of different skeletal cell types in mucopolysaccharidosis dogs at the onset of postnatal growth.Journal of anatomy · 2021Article
- Altered IHH signaling contributes to reduced chondrocyte proliferation in the growth plate of MPS VII mice.Molecular genetics and metabolism reports · 2020Article
- Failures of Endochondral Ossification in the Mucopolysaccharidoses.Current osteoporosis reports · 2020Review
- Growth Plate Pathology in the Mucopolysaccharidosis Type VI Rat Model-An Experimental and Computational Approach.Diagnostics (Basel, Switzerland) · 2020Article
- New Prospects for Restoring Skeletal Growth in Mucopolysaccharidoses.Endocrinology · 2020Article
- Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III).Orphanet journal of rare diseases · 2019Article
- Lysosomal and network alterations in human mucopolysaccharidosis type VII iPSC-derived neurons.Scientific reports · 2018Article
- Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.Molecular genetics and metabolism · 2018Review
- Article
- Pathogenesis and treatment of spine disease in the mucopolysaccharidoses.Molecular genetics and metabolism · 2016Review
- The effect of Tlr4 and/or C3 deficiency and of neonatal gene therapy on skeletal disease in mucopolysaccharidosis VII mice.Molecular genetics and metabolism · 2015Article
- Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population.PloS one · 2015Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
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 normal number of chondrocytes in the growth plate and 55% of normal chondrocyte proliferation at 3weeks of age. We hypothesized that this reduction in proliferation was due to C4S-mediated overactivation of fibroblast growth factor receptor 3 (FGFR3). However, MPS VII mice that were FGFR3-deficient still had shortened bones, suggesting that FGFR3 is not required for the bone defect. Further study revealed that MPS VII growth plates had reduced tyrosine phosphorylation of STAT3, a pro-proliferative transcription factor. This was accompanied by a decrease in expression of leukemia inhibitory factor (LIF) and other interleukin 6 family cytokines, and a reduction in phosphorylated tyrosine kinase 2 (TYK2), Janus kinase 1 (JAK1), and JAK2, known activators of STAT3 phosphorylation. Intriguingly, loss of function mutations in LIF and its receptor leads to shortened bones. This suggests that accumulation of C4S in the growth plate leads to reduced expression of LIF and reduced STAT3 tyrosine phosphorylation, which results in reduced chondrocyte proliferation and ultimately shortened bones.
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Registered trials
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