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Article

Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Nov 2016

Gistelinck Charlotte, Witten Paul Eckhard, Huysseune Ann, Symoens Sofie, Malfait Fransiska, Larionova Daria, Simoens Pascal, Dierick Manuel, Van Hoorebeke Luc, De Paepe Anne, Kwon Ronald Y, Weis MaryAnn, Eyre David R, Willaert Andy, Coucke Paul J

Abstract excerpt

Bruck syndrome (BS) is a disorder characterized by joint flexion contractures and skeletal dysplasia that shows strong clinical overlap with the brittle bone disease osteogenesis imperfecta (OI). BS is caused by biallelic mutations in either the FKBP10 or the PLOD2 gene. PLOD2 encodes the lysyl hydroxylase 2 (LH2) enzyme, which is responsible for the hydroxylation of lysine residues in fibrillar collagen...

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Source

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Identifiers

PMID: 27541483
DOI: 10.1002/jbmr.2977
PMCID: PMC5364950

Genes

PLOD2
FKBP10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome.PMID 27541483Read ↗

Loss of the long form of Plod2 phenocopies contractures of Bruck syndrome-osteogenesis imperfecta.Semantic proximity Read ↗

Decrease of lysyl hydroxylase 2 activity causes abnormal collagen molecular phenotypes, defective mineralization and compromised mechanical properties of bone.Semantic proximity Read ↗

Bmpr1aa modulates the severity of the skeletal phenotype in an fkbp10-deficient Bruck syndrome zebrafish model.Semantic proximity Read ↗

Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2.Semantic proximity Read ↗

Clinical Variability Within the PLOD2-Associated Phenotypic Continuum: Three Novel Variants in Four Patients from a Descriptive Case Series.Semantic proximity Read ↗

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.Semantic proximity Read ↗

Cellular and Molecular Effects of the Bruck Syndrome-Associated Mutation in the PLOD2 Gene.Semantic proximity Read ↗

Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathiesSemantic proximity Read ↗

Novel Mutations in PLOD2 Cause Rare Bruck Syndrome.Semantic proximity Read ↗

Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2Semantic proximity Read ↗

Skeletal diseases caused by mutations that affect collagen structure and function.Semantic proximity Read ↗

Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17.Semantic proximity Read ↗

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