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

Authors: 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  J├╝ppner, 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  Osteoporosis-Pseudoglioma Syndrome Collaborative Group,  
Citation: Gong Y, etal., Cell. 2001 Nov 16;107(4):513-23.
Pubmed: (View Article at PubMed) PMID:11719191

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.

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RGD Object Information
RGD ID: 12792277
Created: 2017-03-15
Species: All species
Last Modified: 2017-03-15
Status: ACTIVE



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