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Article

Structure-based mutation analysis shows the importance of LRP5 beta-propeller 1 in modulating Dkk1-mediated inhibition of Wnt signaling.

Gene - 15 Apr 2007

Bhat Bheem M, Allen Kristina M, Liu Wei, Graham James, Morales Art, Anisowicz Anthony, Lam Ho-Sun, McCauley Catherine, Coleburn Valerie, Cain Michael, Fortier Eric, Bhat Ramesh A, Bex Frederick J, Yaworsky Paul J

Abstract excerpt

A single point mutation (G to T) in the low-density lipoprotein receptor related protein 5 (LRP5) gene results in a glycine to valine amino acid change (G171V) and is responsible for an autosomal dominant high bone mass trait (HBM) in two independent kindreds. LRP5 acts as a co-receptor to Wnts w...

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Source

Identifiers

PMID: 17276019
DOI: 10.1016/j.gene.2006.12.014

Genes

LRP5
HBM
LDLR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17276019-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Structure-based mutation analysis shows the importance of LRP5 beta-propeller 1 in modulating Dkk1-mediated inhibition of Wnt signaling.PMID 17276019Read ↗

Novel LRP5 missense mutation in a patient with a high bone mass phenotype results in decreased DKK1-mediated inhibition of Wnt signaling.Semantic proximity Read ↗

High bone density due to a mutation in LDL-receptor-related protein 5.Semantic proximity Read ↗

Reduced affinity to and inhibition by DKK1 form a common mechanism by which high bone mass-associated missense mutations in LRP5 affect canonical Wnt signaling.Semantic proximity Read ↗

The LRP5 high-bone-mass G171V mutation disrupts LRP5 interaction with Mesd.Semantic proximity Read ↗

Identification of the first deletion in the LRP5 gene in a patient with autosomal dominant osteopetrosis type I.Semantic proximity Read ↗

A cell-based Dkk1 binding assay reveals roles for extracellular domains of LRP5 in Dkk1 interaction and highlights differences between wild-type and the high bone mass mutant LRP5(G171V).Semantic proximity Read ↗

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Pathogenic mutations and polymorphisms in the lipoprotein receptor-related protein 5 reveal a new biological pathway for the control of bone mass.Semantic proximity Read ↗

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