title: [Cytokines in bone diseases. Wnt signaling and osteoporosis-pseudoglioma syndrome].
abstract: Wnt signaling system plays essential roles in development, cancer and bone metabolism. Canonical wnt signaling, which involves wnt ligands, receptor named frizzled and co-receptors LRP5/6, beta-catenin and transcription factors named LEF/TCF is well characterized and its defect causes bone abnormalities. The loss-of-function type of the LRP5 gene mutation is responsible for osteoporosis-pseudoglioma syndrome. In addition, the LRP6 gene mutation leads to osteoporosis and metabolic syndrome. Thus, wnt signaling system is one of determinant factors for bone mineral density.
authors.affiliation: Department of Pediatrics, Osaka University Graduate School of Medicine.
authors.forename: Keiichi
authors.initials: K
authors.lastname: Ozono
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D015519:Bone Density / Q000235:genetics*; D051157:Frizzled Receptors / Q000502:physiology; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D026502:LDL-Receptor Related Proteins / Q000235:genetics* / Q000502:physiology*; D060492:Low Density Lipoprotein Receptor-Related Protein-5; D060488:Low Density Lipoprotein Receptor-Related Protein-6; D009154:Mutation; D010013:Osteogenesis Imperfecta / Q000235:genetics; D011506:Proteins / Q000235:genetics / Q000502:physiology; D015398:Signal Transduction / Q000235:genetics* / Q000502:physiology*; D051820:TCF Transcription Factors / Q000502:physiology; D051153:Wnt Proteins / Q000235:genetics* / Q000502:physiology*; D051176:beta Catenin / Q000502:physiology
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D051157:Frizzled Receptors; D047908:Intracellular Signaling Peptides and Proteins; D026502:LDL-Receptor Related Proteins; C555482:LRP5 protein, human; C555475:LRP6 protein, human; D060492:Low Density Lipoprotein Receptor-Related Protein-5; D060488:Low Density Lipoprotein Receptor-Related Protein-6; D011506:Proteins; C480733:SOSTDC1 protein, human; D051820:TCF Transcription Factors; D051153:Wnt Proteins; D051176:beta Catenin