Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
An Additional Lrp4 High Bone Mass Mutation Mitigates the Sost-Knockout Phenotype in Mice by Increasing Bone Remodeling.
Hendrickx G et al.
Calcified Tissue International, 2024
New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome.
Masingue M et al.
Scientific Reports, 2023
Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis.
Cassim A et al.
Orphanet Journal of Rare Diseases, 2022
Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome.
Khan H et al.
Journal of Human Genetics, 2022
Positive and Negative Regulators of Sclerostin Expression.
Iwamoto R et al.
International Journal of Molecular Sciences, 2022
Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis.
Huybrechts Y et al.
Genes, 2021
A novel biallelic splice-site variant in the LRP4 gene causes sclerosteosis 2.
Bukowska-Olech E et al.
Birth Defects Research, 2020
Lrp4 Mediates Bone Homeostasis and Mechanotransduction through Interaction with Sclerostin In Vivo.
Bullock WA et al.
Iscience, 2019
Lrp4 expression by adipocytes and osteoblasts differentially impacts sclerostin's endocrine effects on body composition and glucose metabolism.
Kim SP et al.
The Journal of Biological Chemistry, 2019
Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.
Del-Toro N et al.
Nature Communications, 2019
Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.
Sukenik Halevy R et al.
Human Mutation, 2018
Genetics of Sost/SOST in sclerosteosis and van Buchem disease animal models.
Sebastian A et al.
Metabolism: Clinical and Experimental, 2018
The Lrp4R1170Q Homozygous Knock-In Mouse Recapitulates the Bone Phenotype of Sclerosteosis in Humans.
Boudin E et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2017
Genetic control of bone mass.
Boudin E et al.
Molecular and Cellular Endocrinology, 2016
A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone.
Fijalkowski I et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
LRP4 in neuromuscular junction and bone development and diseases.
Shen C et al.
Bone, 2015
Lrp4 in osteoblasts suppresses bone formation and promotes osteoclastogenesis and bone resorption.
Xiong L et al.
Proceedings of the National Academy of Sciences of the United States of America, 2015
LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner.
Ohkawara B et al.
Human Molecular Genetics, 2014
Novel SOST gene mutation in a sclerosteosis patient from Morocco: a case report.
Belkhribchia MR et al.
European Journal of Medical Genetics, 2014
Wnt antagonists bind through a short peptide to the first β-propeller domain of LRP5/6.
Bourhis E et al.
Structure (london, England : 1993), 2011
Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function.
Leupin O et al.
The Journal of Biological Chemistry, 2011