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Title: LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
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.; Allgrove, J.; Arslan-Kirchner, M.; Batch, J.A.; Beighton, P.; Black, G.C.M.; Boles, R.G.; Boon, L.; Borrone, C.; Brunner, H.G. ; Carle, G.F.; Dallapicola, B.; Paepe, A. de; Floege, B.; Halfhide, M.L.; Hall, B.D.; Hennekam, R.C.M.; Hirose, T.; Jans, A.; Juppner, H.; Kim, C.; 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.; Boogaard, M.J. van den; Hul, W. van; Vikkula, M.; Votruba, M.; Zabel, B.; Garcia, T.; Baron, R.; Olsen, B.R.; Warman, M.L.
Publication year: 2001
Source: Cell, vol. 107, iss. 4, (2001), pp. 513--23
ISSN: 0092-8674
DOI: https://doi.org/10.1016/S0092-8674(01)00571-2
Publication type: Article / Letter to editor

Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/140009   https://hdl.handle.net/2066/140009

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Subject: Elucidation of hereditary disorders and their molecular diagnosis
Opheldering van erfelijke ziekten en hun moleculaire diagnostiek
Organization: Human Genetics
Journal title:
Cell
Volume: vol. 107
Issue: iss. 4
Page start: p. 513-
Page end: p. 23
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. Gong, Y

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