Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

No abstract is available for this paper.

• Publication year

  2009

• Venue

  Cell and Tissue Research

• Publication date

  Unknown publication date

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/s00441-009-0872-0PMID 19862557PMCID PMC3156555
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Biochemical Characterization of the Prolyl 3-Hydroxylase 1·Cartilage-associated Protein·Cyclophilin B Complex*

  2009cited by this paper
• Expression of prolyl 3-hydroxylase genes in embryonic and adult mouse tissues.

  2009cited by this paper
• CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

  2009influential reference
• CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

  2009influential reference
• CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta

  2008influential reference
• Popcorn calcification in osteogenesis imperfecta: Incidence, progression, and molecular correlation

  2008cited by this paper
• Characterization of Recombinant Human Prolyl 3-Hydroxylase Isoenzyme 2, an Enzyme Modifying the Basement Membrane Collagen IV*

  2008cited by this paper
• Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships

  2008cited by this paper
• Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

  2008influential reference
• Proteomics of chondrocytes with special reference to phosphorylation changes of proteins in stretched human chondrosarcoma cells

  2008cited by this paper
• Leprecan distribution in the developing and adult kidney.

  2007cited by this paper
• Components of the Collagen Prolyl 3-Hydroxylation Complex are Crucial for Normal Bone Development

  2007cited by this paper
• Loss of Assembly of the Main Basement Membrane Collagen, Type IV, but Not Fibril-forming Collagens and Embryonic Death in Collagen Prolyl 4-Hydroxylase I Null Mice*

  2007cited by this paper
• Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

  2007influential reference
• ER Stress-Mediated Apoptosis in a New Mouse Model of Osteogenesis imperfecta

  2007cited by this paper
• Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans

  2007cited by this paper
• Type I collagen glomerulopathy: postnatal collagen deposition follows glomerular maturation.

  2007cited by this paper
• The CXXC Motif Is More than a Redox Rheostat*

  2007cited by this paper
• CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.

  2006influential reference
• Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.

  2006influential reference
• Misfolding of Collagen X Chains Harboring Schmid Metaphyseal Chondrodysplasia Mutations Results in Aberrant Disulfide Bond Formation, Intracellular Retention, and Activation of the Unfolded Protein Response*

  2005cited by this paper
• The small Tim proteins and the twin Cx3C motif.

  2004cited by this paper
• Prolyl 3-Hydroxylase 1, Enzyme Characterization and Identification of a Novel Family of Enzymes*

  2004influential reference
• Accumulation of type IV collagen in dilated ER leads to apoptosis in Hsp47-knockout mouse embryos via induction of CHOP

  2004cited by this paper
• PDI-mediated ER retention and proteasomal degradation of procollagen I in corneal endothelial cells.

  2004cited by this paper
• Premature aggregation of type IV collagen and early lethality in lysyl hydroxylase 3 null mice.

  2004cited by this paper
• C and CX3C chemokines: cell sources and physiopathological implications.

  2004cited by this paper
• Collagens, modifying enzymes and their mutations in humans, flies and worms.

  2004cited by this paper
• Different Contributions of the Three CXXC Motifs of Human Protein-disulfide Isomerase-related Protein to Isomerase Activity and Oxidative Refolding*

  2004cited by this paper
• Glycosylated matrix protein

  2002cited by this paper
• Novel collagen glomerulopathy in a homotrimeric type I collagen mouse (oim).

  2002cited by this paper
• Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease.

  2002cited by this paper
• Osteogenesis imperfecta type VII maps to the short arm of chromosome 3.

  2002influential reference
• Protein Disulfide Isomerase : Cellular Enzymology of the CXXC Motif

  2001cited by this paper
• Gros1, a potential growth suppressor on chromosome 1: its identity to basement membrane-associated proteoglycan, leprecan

  2000cited by this paper
• cDNA cloning, characterization and chromosome mapping of the gene encoding human cartilage associated protein (CRTAP)

  2000influential reference
• Molecular Characterization of a Novel Basement Membrane-associated Proteoglycan, Leprecan*

  1999influential reference
• cDNA cloning, characterization and chromosome mapping of Crtap encoding the mouse cartilage associated protein.

  1999cited by this paper
• Intracellular Retention of Procollagen within the Endoplasmic Reticulum Is Mediated by Prolyl 4-Hydroxylase*

  1999cited by this paper
• The retention of abnormal type I procollagen and correlated expression of HSP 47 in fibroblasts from a patient with lethal osteogenesis imperfecta

  1998cited by this paper
• Prolyl Hydroxylase, Protein Disulfide Isomerase and Other Structurally Related Proteins

  1997cited by this paper
• Cartilage associated protein (CASP) is a novel developmentally regulated chick embryo protein.

  1997influential reference
• SCO1 and SCO2 Act as High Copy Suppressors of a Mitochondrial Copper Recruitment Defect in Saccharomyces cerevisiae*

  1996cited by this paper
• Hypercalciuria in osteogenesis imperfecta: a follow-up study to assess renal effects.

  1995cited by this paper
• Hydroxylation of collagen type I: evidence that both lysyl and prolyl residues are overhydroxylated in osteogenesis imperfecta

  1995cited by this paper
• BiP binds type I procollagen pro alpha chains with mutations in the carboxyl-terminal propeptide synthesized by cells from patients with osteogenesis imperfecta.

  1993cited by this paper
• Temperature-induced post-translational over-modification of type I procollagen. Effects of over-modification of the protein on the rate of cleavage by procollagen N-proteinase and on self-assembly of collagen into fibrils.

  1992cited by this paper
• Cyclosporin A slows collagen triple-helix formation in vivo: indirect evidence for a physiologic role of peptidyl-prolyl cis-trans-isomerase.

  1991cited by this paper
• Phenotypical features of an unique Irish family with severe autosomal recessive Osteogenesis imperfecta

  1989cited by this paper
• Cyclophilin and peptidyl-prolyl cis-trans isomerase are probably identical proteins

  1989cited by this paper
• Osteogenesis imperfecta in childhood: cardiac and renal manifestations

  1989cited by this paper
• Phenotypical features of an unique Irish family with severe autosomal recessive Osteogenesis imperfecta

  1989cited by this paper
• Structure, function and evolution of bacterial ferredoxins.

  1988cited by this paper
• The influence of peptidyl-prolyl cis-trans isomerase on the in vitro folding of type III collagen.

  1987cited by this paper
• [Determination of enzymatic catalysis for the cis-trans-isomerization of peptide binding in proline-containing peptides].

  1984cited by this paper
• Folding mechanism of the triple helix in type-III collagen and type-III pN-collagen. Role of disulfide bridges and peptide bond isomerization.

  1980cited by this paper
• Partial purification and characterization of chick-embryo prolyl 3-hydroxylase.

  1979cited by this paper
• Assembly of the mitochondrial membrane system. DNA sequence of subunit 2 of yeast cytochrome oxidase.

  1979cited by this paper
• Genetic heterogeneity in osteogenesis imperfecta.

  1979influential reference
• Collagen glycosyltransferases.

  1979cited by this paper
• Prolyl 3-hydroxylase: partial characterization of the enzyme from rat kidney cortex.

  1977cited by this paper
• Assembly of the mitochondrial membrane system XIX

  1976cited by this paper
• The covalent structure of collagen. Amino-acid sequence of peptide 1-CB6-C2.

  1972cited by this paper

• Molecular drivers of osteogenesis imperfecta: a cellular and extracellular collagen disease

  2025cites this paper
• Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study

  2024cites this paper
• Genetic Analysis, Phenotypic Spectrum and Functional Study of Rare Osteogenesis Imperfecta Caused by CRTAP Variants

  2024cites this paper
• Evaluation of Radiolucent Lesions in Cortices of Long Bones in Osteogenesis Imperfecta Patients

  2024cites this paper
• A non-lethal presentation of osteogenesis imperfecta type VIII due to homozygous mutation in P3H1 gene

  2024cites this paper
• Update on the Genetics of Osteogenesis Imperfecta

  2024cites this paper
• A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII

  2023cites this paper
• Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant in P3H1—further expansion of the phenotypic spectrum

  2023cites this paper
• Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII.

  2023cites this paper
• Bone fragility and osteoporosis in children and young adults

  2023cites this paper
• Shedding Light on Bone Morphogenetic Protein (BMP) Signaling Modifiers to Modulate Fibrodysplasia Ossificans Progressiva Severity

  2022cites this paper
• Abnormal Bone Collagen Cross‐Linking in Osteogenesis Imperfecta/Bruck Syndrome Caused by Compound Heterozygous PLOD2 Mutations

  2021cites this paper
• Targeted High-Throughput Sequencing Analysis Results of Osteogenesis Imperfecta Patients from Different Regions of Turkey

  2021cites this paper
• Type I and type V procollagen triple helix uses different subsets of the molecular ensemble for lysine posttranslational modifications in the rER

  2021cites this paper
• Basic Structure, Physiology, and Biochemistry of Connective Tissues and Extracellular Matrix Collagens.

  2021cites this paper
• A Founder Pathogenic Variant of PPIB Unique to Chinese Population Causes Osteogenesis Imperfecta IX

  2021cites this paper
• Collagen transport and related pathways in Osteogenesis Imperfecta

  2021cites this paper
• Disorders of Mineral Metabolism II. Abnormalities of Mineral Homeostasis in the Newborn, Infant, Child, and Adolescent

  2021cites this paper
• A novel P3H1 mutation is associated with osteogenesis imperfecta type VIII and dental anomalies.

  2021cites this paper
• Osteogenesis imperfecta: Review of 40 patients

  2020cites this paper
• A new case of osteogenesis imperfecta type VIII and retinal detachment

  2020cites this paper
• Osteogenesis imperfecta: Review of 40 patients.

  2020cites this paper
• Substitution of murine type I collagen A1 3-hydroxylation site alters matrix structure but does not recapitulate osteogenesis imperfecta bone dysplasia.

  2020cites this paper
• Dental and craniofacial defects in the Crtap−/− mouse model of osteogenesis imperfecta type VII

  2020cites this paper
• Bone Turnover Markers in Osteogenesis Imperfecta and Effect of Bisphosphonate Treatment: First Egyptian Study

  2020cites this paper
• Osteogénesis imperfecta: análisis de 40 pacientes

  2020cites this paper
• Novel Compound Heterozygous Mutations in CRTAP Cause Rare Autosomal Recessive Osteogenesis Imperfecta

  2020cites this paper
• CRISPR/CAS9-Mediated Gene Editing in Herda Equine

  2020cites this paper
• Suitability and limitations of mesenchymal stem cells to elucidate human bone illness

  2019cites this paper
• Re-evaluation of lysyl hydroxylation in the collagen triple helix: lysyl hydroxylase 1 and prolyl 3-hydroxylase 3 have site-differential and collagen type-dependent roles in lysine hydroxylation

  2019cites this paper
• Das Knochenmaterial: Ein Nano-Komposit aus Mineral und Kollagen

  2019cites this paper
• Bilateral giant retinal tears in Osteogenesis Imperfecta

  2018cites this paper
• Targeting Trafficking in Drug Development

  2018cites this paper
• Heritable Skeletal Disorders Arising from Defects in Processing and Transport of Type I Procollagen from the ER: Perspectives on Possible Therapeutic Approaches.

  2018cites this paper
• Genotype-phenotype correlation among Malaysian patients with osteogenesis imperfecta.

  2018cites this paper
• Cytoskeleton and nuclear lamina affection in recessive osteogenesis imperfecta: A functional proteomics perspective

  2017cites this paper
• CRTAP variants in early‐onset osteoporosis and recurrent fractures

  2017cites this paper
• Kuulmislangus osteogenesis imperfecta haigetel. Haigusjuht. Kirjanduse ülevaade

  2017cites this paper
• Two novel mutations in the PPIB gene cause a rare pedigree of osteogenesis imperfecta type IX.

  2017cites this paper
• Fkbp10 Deletion in Osteoblasts Leads to Qualitative Defects in Bone

  2017cites this paper
• Collagen Type I as a Ligand for Receptor-Mediated Signaling

  2017cites this paper
• Osteogenesis imperfecta: new genes reveal novel mechanisms in bone dysplasia.

  2017cites this paper
• Mid-term Results of Femoral and Tibial Osteotomies and Fassier-Duval Nailing in Children With Osteogenesis Imperfecta

  2016cites this paper
• Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and X

  2016cites this paper
• The development of a mature collagen network in cartilage from human bone marrow stem cells in Transwell culture.

  2016cites this paper
• Initial Experience With Percutaneous IM Rodding of the Humeri in Children With Osteogenesis Imperfecta

  2016cites this paper
• Animal models of osteogenesis imperfecta: applications in clinical research

  2016influential citation
• Osteogenesis imperfecta

  2016cites this paper
• Recent developments in osteogenesis imperfecta

  2015cites this paper
• Post-translationally Abnormal Collagens of Prolyl 3-Hydroxylase-2 Null Mice Offer a Pathobiological Mechanism for the High Myopia Linked to Human LEPREL1 Mutations*

  2015cites this paper
• Recent developments in osteogenesis imperfecta [version 1; referees: 3 approved]

  2015cites this paper
• A Transgenic Mouse Model of OI Type V Supports a Neomorphic Mechanism of the IFITM5 Mutation

  2015cites this paper
• KNOTLESS BIDIRECTIONAL BARBED VERSUS SMOOTH POLYPROPYLENE THREE-LOOP PULLEY SUTURES FOR REPAIR OF CANINE GASTROCNEMIUS TENDON

  2015cites this paper
• Understanding Collagen-I Folding and Misfolding by

  2015cites this paper
• The Prevalence and Characteristics of Patients Diagnosed with Osteogenesis Imperfecta at the Zambia Italian Orthopedics Hospital Community Based Rehabilitation Project

  2015cites this paper
• Osteogénesis imperfecta en niños y uso de bifosfonatos

  2015cites this paper
• Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation

  2014cites this paper
• Osteogenesis imperfektalı yetişkin hastada zoledronik asit tedavisi: Bir olgu ve literatür derlemesi

  2014cites this paper
• Recessive Osteogenesis Imperfecta Due to Mutations in CRTAP, LEPRE1 and PPIB

  2014cites this paper
• Erratum to: New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis

  2014cites this paper
• Osteogenesis imperfektali yetişkin hastada zoledronik asit tedavisi: Bir olgu ve literatür derlemesi Zoledronic acid treatment in an adult patient with Osteogenesis Imperfecta: A case report and review of the literature

  2014cites this paper
• Clinical and Genetic Classification of Osteogenesis Imperfecta and Epidemiology

  2014cites this paper
• Recessive Osteogenesis Imperfecta: Prevalence and Pathophysiology of Collagen Prolyl-3-Hydroxylation Complex Defects

  2014cites this paper
• The Collagen Folding Machinery: Biosynthesis and Post-Translational Modifications of Collagens

  2014cites this paper
• Structure, physiology, and biochemistry of collagens.

  2014cites this paper
• Mouse models in tendon and ligament research.

  2014cites this paper
• Connective tissue alterations in Fkbp10-/- mice.

  2014cites this paper
• Differential Effects of Collagen Prolyl 3-Hydroxylation on Skeletal Tissues

  2014cites this paper
• Treatment of osteogenesis imperfecta in adults.

  2014cites this paper
• Molecular properties and fibril ultrastructure of types II and XI collagens in cartilage of mice expressing exclusively the α1(IIA) collagen isoform.

  2014cites this paper
• Identification of a novel COL1A1 frameshift mutation, c.700delG, in a Chinese osteogenesis imperfecta family

  2014cites this paper
• Animal Models of Osteogenesis Imperfecta

  2014cites this paper
• Collagen Structure, Folding and Function

  2014cites this paper
• Mineralized Tissue: Histology, Biology and Biochemistry

  2014cites this paper
• Osteogenesis Imperfecta Due to Compound Heterozygosity for the LEPRE1 Gene

  2013cites this paper
• Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype–phenotype correlations

  2013cites this paper
• Biological role of prolyl 3-hydroxylation in type IV collagen

  2013cites this paper
• Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.

  2013cites this paper
• New genes in bone development: what's new in osteogenesis imperfecta.

  2013cites this paper
• A molecular ensemble in the rER for procollagen maturation.

  2013cites this paper
• Osteogenesis imperfecta and hearing loss--description of three case reports.

  2013cites this paper
• Animal models of osteogenesis imperfecta and craniofacial development

  2013cites this paper
• Autosomal Recessive Osteogenesis Imperfecta: A Puzzle for Bone Formation, Structure and Function

  2013cites this paper
• Osteogenesis Imperfecta and Hearing Loss—Description of Three Case Reports

  2013cites this paper
• Chapter 17 – Osteogenesis Imperfecta

  2013cites this paper
• Osteogénesis imperfecta e hipoacusia. Descripción de 3 casos

  2013cites this paper
• Prolyl 3-hydroxylase-1 null mice exhibit hearing impairment and abnormal morphology of the middle ear bone joints.

  2013cites this paper
• Metabolic and endocrine disorders

  2012cites this paper
• Estudo clínico-funcional de pacientes pediátricos com osteogênese imperfeita

  2012cites this paper
• Lysyl hydroxylases 1 and 2 : characterization of their in vivo roles in mouse and the molecular level consequences of the lysyl hydroxylase 2 mutations found in Bruck syndrome

  2012influential citation
• Analýza mutací genu COL1A1 českých pacientů s diagnózou osteogenesis imperfecta, typ I-IV

  2012cites this paper
• Comparison of bone tissue properties in mouse models with collagenous and non-collagenous genetic mutations using FTIRI.

  2012cites this paper
• A scoring system for the assessment of clinical severity in osteogenesis imperfecta

  2012cites this paper
• Changes in cranial base and craniocervical junction during growth in healthy individuals and in patients with Osteogenesis imperfecta

  2012cites this paper
• Mutation Analysis of the COL1A1 Gene in Czech Patients Affected by Osteogenesis Imperfecta, Type I-IV

  2012cites this paper
• Changes in cranial base and craniocervical junction during growth in healthy individuals and in patients with osteogenesis imperfecta

  2012influential citation
• Tooth dentin defects reflect genetic disorders affecting bone mineralization.

  2012cites this paper
• A novel splicing mutation in FKBP10 causing osteogenesis imperfecta with a possible mineralization defect.

  2012cites this paper
• Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findings

  2012influential citation
• Osteogenesis imperfecta

  2012cites this paper