1. LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development
- Author
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Raoul C.M. Hennekam, Tim Cundy, E. Steichen-Gersdorf, Shauna Heeger, J. A. Batch, Andrea Superti-Furga, Francis H. Glorieux, Leena Peltonen, R. B. Slee, E. Lemyre, A. Kohlschuetter, Bjorn R. Olsen, W. Swoboda, A. Jans, M. J. van den Boogaard, Bernhard Zabel, Konrad Oexle, Graeme C.M. Black, M. Zacharin, B. Floege, Han G. Brunner, Rajkumar Ramesar, Wafaa M. Suwairi, Sergio Roman-Roman, Jose Marcelino, C. Borrone, Anthony M. Reginato, J. Allgrove, Beth A. Sullivan, A. De Paepe, Matthew L. Warman, H. Somer, Beat Steinmann, M. Arslan-Kirchner, Georges Rawadi, W. Van Hul, K. Keppler-Noreuil, W. N. Adkins, G. Sabatakos, Bruno Dallapiccola, Chong Ae Kim, Naomi Fukai, Dorit Lev, Tatsuo Hirose, Miikka Vikkula, Marcela Votruba, Teresa Garcia, M. Lambert, M. L. Halfhide, R. G. Boles, Roland Baron, G. F. Carle, H. W. Wang, L. M. Boon, M. Romanengo, Harald Jüppner, T. Letteboer, Barbara Hall, Peter Beighton, Yaoqin Gong, Didier Lacombe, Suneel S. Apte, Génétique et signalisation moléculaire (GSM), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre Hospitalier Universitaire de Nice (CHU Nice)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Génétique et pathologies moléculaires (GPM), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Génétique, physiopathologie et ingénierie du tissu osseux (GéPITOS), Université Nice Sophia Antipolis (... - 2019) (UNS), Centre National de la Recherche Scientifique (CNRS)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA), and Other departments
- Subjects
Male ,Osteoporosis ,Dishevelled Proteins ,Bone Morphogenetic Protein 2 ,Wnt2 Protein ,Mesoderm ,MESH: Recombinant Proteins ,Mice ,MESH: Animals, Outbred Strains ,0302 clinical medicine ,Transforming Growth Factor beta ,MESH: Child ,MESH: Animals ,MESH: Proteins ,Eye Abnormalities ,Child ,0303 health sciences ,MESH: Mesoderm ,Wnt signaling pathway ,MESH: Wnt Proteins ,MESH: COS Cells ,Child, Preschool ,COS Cells ,medicine.medical_specialty ,Recombinant Fusion Proteins ,MESH: Eye ,MESH: Zebrafish Proteins ,Transfection ,Bone morphogenetic protein ,Wnt-5a Protein ,General Biochemistry, Genetics and Molecular Biology ,Wnt3 Protein ,03 medical and health sciences ,Organ Culture Techniques ,Species Specificity ,MESH: Wnt2 Protein ,Animals, Outbred Strains ,MESH: Recombinant Fusion Proteins ,Humans ,MESH: Species Specificity ,LDL-Receptor Related Proteins ,MESH: Genes, Recessive ,MESH: Adaptor Proteins, Signal Transducing ,Osteoblasts ,MESH: Humans ,Skull ,MESH: Child, Preschool ,Proteins ,MESH: Adult ,medicine.disease ,MESH: Cercopithecus aethiops ,Mice, Inbred C57BL ,Wnt Proteins ,Endocrinology ,MESH: Receptors, LDL ,Culture Media, Conditioned ,Stromal Cells ,Opheldering van erfelijke ziekten en hun moleculaire diagnostiek ,MESH: Female ,MESH: Signal Transduction ,Bone density ,MESH: Bone Morphogenetic Proteins ,Eye ,Bone Density ,Wnt4 Protein ,Chlorocebus aethiops ,MESH: Syndrome ,MESH: Bone Density ,MESH: Heterozygote ,MESH: Culture Media, Conditioned ,LRP5 ,Syndrome ,MESH: Eye Abnormalities ,Recombinant Proteins ,Low Density Lipoprotein Receptor-Related Protein-5 ,Bone Morphogenetic Proteins ,Female ,MESH: Skull ,Signal Transduction ,MESH: Osteoporosis ,Adult ,Peak bone mass ,Heterozygote ,DNA, Complementary ,Elucidation of hereditary disorders and their molecular diagnosis ,Genes, Recessive ,030209 endocrinology & metabolism ,Biology ,Bone morphogenetic protein 2 ,MESH: Phosphoproteins ,MESH: LDL-Receptor Related Proteins ,MESH: Mice, Inbred C57BL ,Proto-Oncogene Proteins ,Internal medicine ,medicine ,Animals ,[SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology ,MESH: Mice ,MESH: Transforming Growth Factor beta ,Adaptor Proteins, Signal Transducing ,030304 developmental biology ,MESH: Osteoblasts ,Biochemistry, Genetics and Molecular Biology(all) ,Chromosomes, Human, Pair 11 ,MESH: Transfection ,MESH: DNA, Complementary ,Zebrafish Proteins ,Phosphoproteins ,MESH: Male ,MESH: Organ Culture Techniques ,MESH: Proto-Oncogene Proteins ,Receptors, LDL ,LDL receptor ,MESH: Chromosomes, Human, Pair 11 ,MESH: Stromal Cells - Abstract
Item does not contain fulltext In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass accrual during growth. Mutations in LRP5 cause the autosomal recessive disorder osteoporosis-pseudoglioma syndrome (OPPG). We find that OPPG carriers have reduced bone mass when compared to age- and gender-matched controls. We demonstrate LRP5 expression by osteoblasts in situ and show that LRP5 can transduce Wnt signaling in vitro via the canonical pathway. We further show that a mutant-secreted form of LRP5 can reduce bone thickness in mouse calvarial explant cultures. These data indicate that Wnt-mediated signaling via LRP5 affects bone accrual during growth and is important for the establishment of peak bone mass. Gong, Y
- Published
- 2001
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