ArticleProceedings of the National Academy of Sciences of the United States of America1999
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.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
54 citing papers in PubMed, 1 synthesis or guideline pooled it, 197 citations in OpenAlex.
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- Significant improvement following intravenous zoledronate therapy in Bruck syndrome 2 due to a rareJCEM case reports · 2026Article
- Clinical Variability Within theGenes · 2026Article
- Post-translational modifications of collagen type I in osteogenesis imperfecta: Systematic review and meta-analysis.Bone reports · 2026Article
- A novel small molecule that enhances lysyl hydroxylase 2 activity and matrix mineralization.Biochemistry and biophysics reports · 2025Article
- Loss of the long form of Plod2 phenocopies contractures of Bruck syndrome-osteogenesis imperfecta.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
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- Arthrogryposis multiplex congenita in a child with congenital fractures: a case report.Journal of medical case reports · 2022Article
- Lysyl hydroxylase 2 mediated collagen post-translational modifications and functional outcomes.Scientific reports · 2022Article
- CD73Annals of translational medicine · 2022Article
- Genetic Analysis and Functional Study of a Pedigree With Bruck Syndrome Caused byFrontiers in pediatrics · 2022Article
- Localized chondro-ossification underlies joint dysfunction and motor deficits in theProceedings of the National Academy of Sciences of the United States of America · 2021Article
- Abnormal Bone Collagen Cross-Linking in Osteogenesis Imperfecta/Bruck Syndrome Caused by Compound HeterozygousJBMR plus · 2021Article
- Case Report: Exome Sequencing Identified a Novel Compound Heterozygous Variation inFrontiers in genetics · 2021Article
- Exome Sequencing Reveals a Phenotype Modifying Variant in ZNF528 in Primary Osteoporosis With a COL1A2 Deletion.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2020Article
- FKBP65-dependent peptidyl-prolyl isomerase activity potentiates the lysyl hydroxylase 2-driven collagen cross-link switch.Scientific reports · 2017Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Bruck syndrome is characterized by the presence of osteoporosis, joint contractures, fragile bones, and short stature. We report that lysine residues within the telopeptides of collagen type I in bone are underhydroxylated, leading to aberrant crosslinking, but that the lysine residues in the triple helix are normally modified. In contrast to bone, cartilage and ligament show unaltered telopeptide hydroxylation as evidenced by normal patterns of crosslinking. The results provide compelling evidence that collagen crosslinking is regulated primarily by tissue-specific enzymes that hydroxylate only telopeptide lysine residues and not those destined for the helical portion of the molecule. This new family of enzymes appears to provide the primary regulation for controlling the different pathways of collagen crosslinking and explains why crosslink patterns are tissue specific and not related to a genetic collagen type. A genome screen identified only a single region on chromosome 17p12 where all affected sibs shared a cluster of haplotypes identical by descent; this might be the BS (Bruck syndrome) locus and consequently the region where bone telopeptidyl lysyl hydroxylase is located. Further knowledge of this enzyme has important implications for conditions where aberrant expression of telopeptide lysyl hydroxylase occurs, such as fibrosis and scar formation.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.