دورية أكاديمية
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
| العنوان: | LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. |
|---|---|
| المؤلفون: | Gong, Y., Slee, R. B., Fukai, N., Rawadi, G., Roman-Roman, S., Reginato, A. M., Wang, H., Cundy, T., Glorieux, F. H., Lev, D., Zacharin, M., Oexle, K., Marcelino, J., Suwairi, W., Heeger, S., Sabatakos, G., Apte, S., Adkins, W. N., Allgrove, J., Arslan-Kirchner, M., Batch, J. A., Beighton, P., Black, G. C., Boles, R. G., Boon, L. M., Borrone, C., Brunner, H. G., Carle, G. F., Dallapiccola, B., de Paepe, A., Floege, B., Halfhide, M. L., Hall, B., Hennekam, R. C., Hirose, T., Jans, A., Jüppner, H., Kim, C. A., Keppler-Noreuil, K., Kohlschuetter, A., Lacombe, D., Lambert, M., Lemyre, E., Letteboer, T., Peltonen, L., Ramesar, R. S., Romanengo, M., Somer, H., Steichen-Gersdorf, E., Steinmann, B., Sullivan, B., Superti-Furga, A., Swoboda, W., van den Boogaard, M. J., van Hul, W., Vikkula, M., Votruba, M., Zabel, B., Garcia, T., Baron, R., Olsen, B. R., Warman, M. L. |
| المساهمون: | Génétique et signalisation moléculaire (GSM), Université Nice Sophia Antipolis (1965 - 2019) (UNS)-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), Université Nice Sophia Antipolis (1965 - 2019) (UNS)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UniCA), Génétique, physiopathologie et ingénierie du tissu osseux (GéPITOS) |
| المصدر: | ISSN: 0092-8674. |
| بيانات النشر: | HAL CCSD Elsevier |
| سنة النشر: | 2001 |
| المجموعة: | HAL-CEA (Commissariat à l'énergie atomique et aux énergies alternatives) |
| مصطلحات موضوعية: | MESH: Adult, MESH: Chromosomes, Human, Pair 11, MESH: Culture Media, Conditioned, MESH: DNA, Complementary, MESH: Eye, MESH: Eye Abnormalities, MESH: Female, MESH: Genes, Recessive, MESH: Heterozygote, MESH: Humans, MESH: LDL-Receptor Related Proteins, MESH: Animals, MESH: Male, MESH: Mesoderm, MESH: Mice, Inbred C57BL, MESH: Organ Culture Techniques, MESH: Osteoblasts, MESH: Osteoporosis, MESH: Phosphoproteins, MESH: Proteins, MESH: Proto-Oncogene Proteins, Outbred Strains, MESH: Receptors, LDL |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/11719191; hal-00306959; https://hal.science/hal-00306959Test; PUBMED: 11719191 |
| الإتاحة: | https://hal.science/hal-00306959Test |
| رقم الانضمام: | edsbas.EEB648F8 |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |