ArticleEMBO molecular medicine2013
Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II.
Article in EMBO molecular medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed.
- Disruption of Man-6-P-Dependent Sorting to Lysosomes Confers IGF1R-Mediated Apoptosis Resistance.International journal of molecular sciences · 2025Article
- Multi-omic analysis of a mucolipidosis II neuronal cell model uncovers involvement of pathways related to neurodegeneration and drug metabolism.Molecular genetics and metabolism · 2024Article
- Oxidative-Stress-Related Genes in Osteoporosis: A Systematic Review.Antioxidants (Basel, Switzerland) · 2023Review
- Secondary Hyperparathyroidism in Children with Mucolipidosis Type II (I-Cell Disease): Irish Experience.Journal of clinical medicine · 2022Article
- Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- "Growth patterns in children with mucopolysaccharidosis type I-Hurler after hematopoietic stem cell transplantation: Comparison with untreated patients".Molecular genetics and metabolism reports · 2021Article
- Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene.Journal, genetic engineering & biotechnology · 2021Article
- Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?Molecular genetics and metabolism reports · 2021Article
- Transgenic inhibition of interleukin-6 trans-signaling does not prevent skeletal pathologies in mucolipidosis type II mice.Scientific reports · 2021Article
- Neonatal Bone Disorders.Frontiers in pediatrics · 2021Review
- Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma.Disease models & mechanisms · 2020Article
- Mucolipidoses Overview: Past, Present, and Future.International journal of molecular sciences · 2020Review
- Distinct Modes of Balancing Glomerular Cell Proteostasis in Mucolipidosis Type II and III Prevent Proteinuria.Journal of the American Society of Nephrology : JASN · 2020Article
- Hip Morphology in Mucolipidosis Type II.Journal of clinical medicine · 2020Article
- Identification of Five Novel Mutations Causing Rare Lysosomal Storage Diseases.Medical science monitor : international medical journal of experimental and clinical research · 2019Article
- Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III.Skeletal radiology · 2019Observational
- Characterization of mesenchymal stem cells in mucolipidosis type II (I-cell disease).Turkish journal of biology = Turk biyoloji dergisi · 2019Article
- Mucolipidosis type III, a series of adult patients.Journal of inherited metabolic disease · 2018Article
- Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.JCI insight · 2018Article
- Quantitative Proteome Analysis of Mouse Liver Lysosomes Provides Evidence for Mannose 6-phosphate-independent Targeting Mechanisms of Acid Hydrolases in Mucolipidosis II.Molecular & cellular proteomics : MCP · 2017Article
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15 authors.
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Abstract
Mucolipidosis type II (MLII) is a severe multi-systemic genetic disorder caused by missorting of lysosomal proteins and the subsequent lysosomal storage of undegraded macromolecules. Although affected children develop disabling skeletal abnormalities, their pathogenesis is not understood. Here we report that MLII knock-in mice, recapitulating the human storage disease, are runted with accompanying growth plate widening, low trabecular bone mass and cortical porosity. Intralysosomal deficiency of numerous acid hydrolases results in accumulation of storage material in chondrocytes and osteoblasts, and impaired bone formation. In osteoclasts, no morphological or functional abnormalities are detected whereas osteoclastogenesis is dramatically increased in MLII mice. The high number of osteoclasts in MLII is associated with enhanced osteoblastic expression of the pro-osteoclastogenic cytokine interleukin-6, and pharmacological inhibition of bone resorption prevented the osteoporotic phenotype of MLII mice. Our findings show that progressive bone loss in MLII is due to the presence of dysfunctional osteoblasts combined with excessive osteoclastogenesis. They further underscore the importance of a deep skeletal phenotyping approach for other lysosomal diseases in which bone loss is a prominent feature.
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