Different Lrp5-HBM mutations induce magnitude- and surface-selective effects that are not explained by receptor trafficking.

doi:10.1093/jbmr/zjag027

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Article

Different Lrp5-HBM mutations induce magnitude- and surface-selective effects that are not explained by receptor trafficking.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 21 Aug 2026

Lim Kyung-Eun, Bullock Whitney A, Hoggatt April M, Horan Daniel J, Kang Kyung-Shin, Warman Matthew L, Robling Alexander G

Abstract excerpt

The Wnt co-receptor LRP5 plays a crucial role in skeletal physiology. Homozygous loss-of-function mutations in the Lrp5 gene produce severe osteopenia, whereas certain heterozygous point mutations produce extreme high bone mass (HBM). Different HBM-causing missense mutations are associated with variable effect magnitudes and sites of action in the skeleton. It is currently unknown whether the inclusion of 2...

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Identifiers

PMID: 42113468
DOI: 10.1093/jbmr/zjag027
PMCID: PMC13501322

Genes

HBM
LRP5

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.