LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.

Details

Serval ID
serval:BIB_A3D193A7D6F3
Type
Article: article from journal or magazin.
Collection
Publications
Title
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
Journal
Cell
Author(s)
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.
Working group(s)
Osteoporosis-Pseudoglioma Syndrome Collaborative Group
ISSN
0092-8674 (Print)
ISSN-L
0092-8674
Publication state
Published
Issued date
2001
Volume
107
Number
4
Pages
513-523
Language
english
Abstract
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.
Keywords
Adaptor Proteins, Signal Transducing, Adult, Animals, Animals, Outbred Strains, Bone Density/genetics, Bone Morphogenetic Protein 2, Bone Morphogenetic Proteins/pharmacology, COS Cells, Cercopithecus aethiops, Child, Child, Preschool, Chromosomes, Human, Pair 11/genetics, Culture Media, Conditioned/pharmacology, DNA, Complementary/genetics, Eye/embryology, Eye Abnormalities/genetics, Female, Genes, Recessive, Heterozygote, Humans, LDL-Receptor Related Proteins, Male, Mesoderm/cytology, Mice, Mice, Inbred C57BL, Organ Culture Techniques, Osteoblasts/metabolism, Osteoporosis/genetics, Phosphoproteins/genetics, Phosphoproteins/physiology, Proteins/genetics, Proteins/physiology, Proto-Oncogene Proteins/genetics, Proto-Oncogene Proteins/physiology, Receptors, LDL/deficiency, Receptors, LDL/genetics, Recombinant Fusion Proteins/physiology, Recombinant Proteins, Signal Transduction, Skull/cytology, Species Specificity, Stromal Cells/cytology, Stromal Cells/drug effects, Syndrome, Transfection, Transforming Growth Factor beta, Wnt Proteins, Wnt2 Protein, Zebrafish Proteins
Pubmed
Web of science
Create date
14/03/2011 16:08
Last modification date
20/08/2019 15:09
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