A collagen defect in homocystinuria.

No abstract is available for this paper.

• Publication year

  1973

• Venue

  Journal of Clinical Investigation

• Publication date

  1973-10-01

• Fields of study

  Biology, Medicine, Chemistry

• Identifiers
  DOI 10.1172/JCI107449PMID 4729050PMCID PMC302517
• 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.

• Structure of two histidine-containing crosslinks from collagen.

  1973cited by this paper
• The biosynthesis of collagen. 1.

  1972cited by this paper
• Aldol-histidine, a new trifunctional collagen crosslink.

  1972cited by this paper
• Structure and Metabolism of Connective Tissue Proteins

  1972cited by this paper
• Structure and metabolism of connective 801 tissue proteins.

  1972cited by this paper
• Relationship between the intra and intermolecular cross-links of collagen.

  1970cited by this paper
• Isolation of lysinonorleucine from collagen.

  1970cited by this paper
• In vitro formation of intermolecular crosslinks in chick skin collagen. II. Kinetics.

  1970cited by this paper
• The cross-linking of collagen and elastin and its inhibition in osteolathyrism. Is there a relation to the aging process?

  1970cited by this paper
• The in vitro formation of intermolecular cross-links in chick skin collagen.

  1970cited by this paper
• Chemistry of the collagen cross-links. Isolation and characterization of two intermediate intermolecular cross-links in collagen.

  1970cited by this paper
• Biochemistry of collagen crosslinking. Isolation of a new crosslink, hydroxylysinohydroxynorleucine, and its reduced precursor, dihydroxynorleucine, from bovine tendon.

  1970cited by this paper
• Characterization of the alpha-chains of chick skin collagen and the nature of the NH2-terminal cross-link region.

  1969cited by this paper
• A defect in the intramolecular and intermolecular cross-linking of collagen caused by penicillamine. II. Functional groups involved in the interaction process.

  1969cited by this paper
• The nature of the intramolecular cross-link in collagen.

  1969cited by this paper
• Identification of a labile intermolecular cross-link in collagen.

  1969cited by this paper
• Collagen reduction by sodium borohydride: effects of reconstitution, maturation and lathyrism.

  1968cited by this paper
• A defect in the intramolecular and intermolecular cross-linking of collagen caused by penicillamine. I. Metabolic and functional abnormalities in soft tissues.

  1968cited by this paper
• Isolation and identification of alpha-amino aldehydes in collagen.

  1968cited by this paper
• Isolation and structural identification of a labile intermolecular crosslink in collagen.

  1968cited by this paper
• Cross-linking of collagen and elastin.

  1968cited by this paper
• Intermolecular cross-links in reconstituted collagen fibrils. Evidence for the nature of the covalent bonds.

  1968cited by this paper
• Biosynthesis of the intramolecular cross-links in rat skin collagen.

  1968cited by this paper
• The nature of the intramolecular cross-links in collagen. The separation and characterization of peptides from the cross-link region of rat skin collagen.

  1966cited by this paper
• Effect of penicillamine on human collagen and its possible application to treatment of scleroderma.

  1966cited by this paper
• The nature and location of intramolecular cross-links in collagen.

  1966cited by this paper
• Collagen profile in various clinical conditions.

  1966cited by this paper
• Preparation of L-homocysteine from L-homocysteine thiolactone.

  1966cited by this paper
• A method for the production of a desired buffer gradient and its use for the chromatographic separation of argininosuccinate

  1965cited by this paper
• Homocystinuria: An Enzymatic Defect

  1964cited by this paper
• An intermolecular defect of collagen in experimental lathyrism.

  1963cited by this paper
• A specific method for the analysis of hydroxyproline in tissues and urine.

  1960cited by this paper
• ALTERATIONS IN STATE OF MOLECULAR AGGREGATION OF COLLAGEN INDUCED IN CHICK EMBRYOS BY β-AMINOPROPIONITRILE (LATHYRUS FACTOR)

  1959cited by this paper
• STUDIES ON THE FORMATION OF COLLAGEN

  1958cited by this paper
• Ion Exchange Chromatography of Amino Acids

  1958cited by this paper
• The heat precipitation of collagen from neutral salt solutions: some rate-regulating factors.

  1958cited by this paper
• Lesions of the skeleton and of other mesodermal tissues in rats fed sweet-pea (Lathyrus odoratus) seeds.

  1954cited by this paper
• COMPOUNDS OF THIOL ACIDS WITH ALDEHYDES

  1936cited by this paper

• The administration of exogenous HSP47 as a collagen-specific therapeutic approach

  2025cites this paper
• Ischemic stroke in young Asians caused by spontaneous cervical artery dissection may be due to slightly increased homocysteine

  2025cites this paper
• Inborn errors of amino acid metabolism – from underlying pathophysiology to therapeutic advances

  2023cites this paper
• Influence of homocysteine and its major genetic and nutritional determinants on bone mineral density

  2022cites this paper
• A COMPARATIVE STUDY ON RISK OF OSTEOPOROSIS ASSOCIATED WITH THE USE OF VALPROATE VERSUS LEVETIRACETAM IN EPILEPTIC PATIENTS AND ITS RELATIONSHIP WITH METHYLENE TETRA-HYDRO FOLATE REDUCTASE GENOTYPES

  2021cites this paper
• Osteogenesis imperfecta and other defects of bone development as occasional causes of adult osteoporosis

  2021cites this paper
• Associations of homocysteine metabolism with the risk of spinal osteoarthritis progression in postmenopausal women.

  2021cites this paper
• Vitamin B12 status is a risk factor for bone fractures among vegans.

  2021cites this paper
• Association Between Hyperhomocysteinemia and Human Chronic Diseases

  2021cites this paper
• Proteomic exploration of cystathionine β-synthase deficiency: implications for the clinic

  2020cites this paper
• Homocysteine Modification in Protein Structure/Function and Human Disease.

  2019cites this paper
• The Effects of Homocysteine on the Skeleton

  2018cites this paper
• Moderate hyperhomocysteinemia induced by short‐term dietary methionine overload alters bone microarchitecture and collagen features during growth

  2017cites this paper
• Dialysis: A Review of the Mechanisms Underlying Complications in the Management of Chronic Renal Failure

  2017cites this paper
• The mechanism of bone fragility in diabetes mellitus

  2017cites this paper
• Effect of Combination Folic Acid, Vitamin B6, and Vitamin B12 Supplementation on Fracture Risk in Women: A Randomized, Controlled Trial

  2017cites this paper
• N‐Homocysteinylation impairs collagen cross‐linking in cystathionine β‐synthase‐deficient mice: a novel mechanism of connective tissue abnormalities

  2016cites this paper
• One carbon metabolism and bone homeostasis and remodeling: A review of experimental research and population studies.

  2016cites this paper
• Low bone mineral density is a common finding in patients with homocystinuria.

  2016cites this paper
• The application of a chemical determination of N-homocysteinylation levels in developing mouse embryos: implication for folate responsive birth defects.

  2015cites this paper
• An Insight into the Role of Vitamins other than Vitamin D on Bone

  2015cites this paper
• Effects of Collagen Crosslinking on Bone Material Properties in Health and Disease

  2015cites this paper
• Association of dietary intake with joint space narrowing and osteophytosis at the knee in Japanese men and women: the ROAD study

  2014cites this paper
• B-vitamins and bone in health and disease: the current evidence

  2014cites this paper
• Chapter 8 – Congenital Diseases

  2014cites this paper
• Unprovoked pulmonary thromboembolism predisposed by hyperhomocysteinemia

  2014cites this paper
• Diabetes, Collagen, and Bone Quality

  2014cites this paper
• Association of Methylene Tetrahydrofolate Reductase Polymorphism with BMD and Homocysteine in Premenopausal North Indian Women.

  2013cites this paper
• Vitamin B12, Folic Acid, and Bone

  2013cites this paper
• The spectrum of achalasia: lessons from studies of pathophysiology and high-resolution manometry.

  2013cites this paper
• Pathophysiological Consequences of Protein N -Homocysteinylation

  2013cites this paper
• Homocysteine in Protein Structure/Function and Human Disease

  2013cites this paper
• Association of dietary intake with joint space narrowing and osteophytosis at the knee in Japanese men and women: the ROAD study

  2013cites this paper
• Osteogenic toxicity in childhood acute lymphoblastic leukemia

  2013cites this paper
• Bone Quality in Diabetes

  2013cites this paper
• Association of Methylene Tetrahydrofolate Reductase Polymorphism with BMD and Homocysteine in Premenopausal North

  2013cites this paper
• The contribution of collagen crosslinks to bone strength.

  2012cites this paper
• Germline variation in the MTHFR and MTRR genes determines the nadir of bone density in pediatric acute lymphoblastic leukemia: a prospective study.

  2011cites this paper
• 1,25‐dihydroxyvitamin D3 influences cellular homocysteine levels in murine preosteoblastic MC3T3‐E1 cells by direct regulation of cystathionine β‐synthase

  2011cites this paper
• Vascular complications of cystathionine β-synthase deficiency: future directions for homocysteine-to-hydrogen sulfide research.

  2011cites this paper
• 1 , 25-Dihydroxyvitamin D 3 Influences Cellular Homocysteine Levels in Murine Preosteoblastic MC 3 T 3E 1 Cells by Direct Regulation of Cystathionine b-Synthase

  2011cites this paper
• Safety of proton pump inhibitor exposure.

  2010cites this paper
• Raloxifene ameliorates detrimental enzymatic and nonenzymatic collagen cross-links and bone strength in rabbits with hyperhomocysteinemia

  2010cites this paper
• Collagen cross-links as a determinant of bone quality: a possible explanation for bone fragility in aging, osteoporosis, and diabetes mellitus

  2010cites this paper
• Endogenous hydrogen sulfide is involved in the pathogenesis of atherosclerosis.

  2010cites this paper
• Biological chemistry of thiols in the vasculature and in vascular-related disease.

  2009cites this paper
• Hyperhomocysteinemia induces a tissue specific accumulation of homocysteine in bone by collagen binding and adversely affects bone.

  2009cites this paper
• D-penicillamine-induced angiopathy in rats. The effect of high dose D-penicillamine treatment on aortic permeability to albumin and on the ultrastructure of the vessel.

  2009cites this paper
• The relation of plasma homocysteine to radiographic knee osteoarthritis.

  2009cites this paper
• New biochemical markers of bone turnover

  2008cites this paper
• Homocysteine Toxicity in Connective Tissue: Theories, Old and New

  2008cites this paper
• Heritable Disorders of Connective Tissue

  2008cites this paper
• Strontium ranelate decreases plasma homocysteine levels in postmenopausal osteoporotic women

  2008cites this paper
• Plasma B vitamins, homocysteine, and their relation with bone loss and hip fracture in elderly men and women.

  2008cites this paper
• The Relationships between Homocysteine, Folate, MTHER and TSER Polymorphism for Osteoporotic Compression Fracture in Postmenopausal Women

  2007cites this paper
• Lowering homocysteine with B vitamins has no effect on biomarkers of bone turnover in older persons: a 2-y randomized controlled trial.

  2007cites this paper
• Homocysteine and fracture risk in postmenopausal women: the OFELY study

  2007cites this paper
• Effect of Homocysteine on Bone Mineral Density of Rats

  2007cites this paper
• B vitamins, homocysteine, and bone disease: Epidemiology and pathophysiology

  2007cites this paper
• Sülfür İçeren Antioksidanların Kurşuna Maruz Kalmış Ratlarda Karaciğer, Böbrek ve Beyin Malondialdehit ve Katalaz Düzeylerine Antioksidan Etkileri

  2007cites this paper
• Relación entre homocisteína y masa ósea en pacientes alcohólicos

  2007cites this paper
• Plasma total homocysteine level and bone mineral density: the Hordaland Homocysteine Study.

  2006cites this paper
• Concepts in Collagen Biochemistry: Evidence that Collagenopathies Underlie Osteogenesis Irnperfecta

  2006cites this paper
• Laboratory Assessment of Postmenopausal Osteoporosis

  2006cites this paper
• Homocysteine Enhances Bone Resorption by Stimulation of Osteoclast Formation and Activity Through Increased Intracellular ROS Generation

  2006cites this paper
• CHAPTER 37 – Laboratory Assessment of Postmenopausal Osteoporosis

  2006cites this paper
• Relation between homocysteine and B-vitamin status indicators and bone mineral density in older Americans.

  2005cites this paper
• Homocysteine and osteoporotic fracture risk: a potential role for B vitamins.

  2005cites this paper
• Relation between homocysteine and biochemical bone turnover markers and bone mineral density in peri- and post-menopausal women

  2005cites this paper
• Homocysteine as a predictive factor for hip fracture in older persons.

  2004cites this paper
• Homocysteine levels and the risk of osteoporotic fracture.

  2004cites this paper
• Flaws in a recent vertebral artery dissection study by Smith et al.

  2004cites this paper
• Skeletal manifestations of lysinuric protein intolerance

  2004cites this paper
• Spontaneous cervical artery dissections and implications for homocysteine.

  2004cites this paper
• Risiken der zervikalen Manipulationsbehandlung im Licht neuerer Erkenntnisse - ein Überblick

  2003cites this paper
• Response to Vertebral Artery Dissection Study: Paper by Smith et al. Published in May 13, 2003 Issue Of Neurology

  2003cites this paper
• Sulphur: the vulnerable factor X in atherosclerosis.

  2002cites this paper
• Plasma Homocysteine Concentration, C677T MTHFR Genotype, and 844ins68bp CBS Genotype in Young Adults With Spontaneous Cervical Artery Dissection and Atherothrombotic Stroke

  2002cites this paper
• Hyperhomocysteinemia

  2002cites this paper
• Preterm Premature Rupture of Membranes: Nutritional and Socioeconomic Factors

  2002cites this paper
• The Hordaland Homocysteine Studies

  2001cites this paper
• Maternal plasma homocysteine levels in women with preterm premature rupture of membranes.

  2001cites this paper
• Dietary Supplementation With Methionine and Homocysteine Promotes Early Atherosclerosis but Not Plaque Rupture in ApoE-Deficient Mice

  2001influential citation
• Association of Methylenetetrahydrofolate Reductase (MTHFR) Polymorphism with Bone Mineral Density in Postmenopausal Japanese Women

  2000cites this paper
• A deficiency of cysteine impairs fibrillin-1 deposition: implications for the pathogenesis of cystathionine beta-synthase deficiency.

  2000cites this paper
• Hyperhomocysteinemia, Vascular Pathology, and Endothelial Dysfunction

  2000cites this paper
• Clinical Relevance of Hyperhomocysteinaemia in Atherothrombotic Disease

  2000cites this paper
• PLATELET-COLLAGEN INTERACTION AND MICROVESICULATION

  2000cites this paper
• Plasma Homocysteine and Cardiovascular Disease

  2000cites this paper
• Animal Models of Aneurysms

  1999cites this paper
• Methods of literature review and synthesis.

  1998cites this paper
• BIOCHEMICAL MARKERS OF BONE TURNOVER: Applications For Osteoporosis

  1998cites this paper
• Pathology of Homocystinuria

  1997cites this paper
• Homocysteine as a risk factor for vascular disease. Enhanced collagen production and accumulation by smooth muscle cells.

  1997cites this paper
• Biological Chemistry of Thiols and the Role of Homocysteine in Vascular-Related Disease

  1997cites this paper
• Evidence for McKusick's hypothesis of deficient collagen cross-linking in patients with homocystinuria.

  1996cites this paper
• Inborn Metabolic Diseases

  1995influential citation
• Homocystinuria Due to Cystathionine β-Synthase Deficiency and Related Disorders

  1995cites this paper
• Tyrosinase inhibition due to interaction of homocyst(e)ine with copper: the mechanism for reversible hypopigmentation in homocystinuria due to cystathionine beta-synthase deficiency.

  1995cites this paper
• Chemical pathology of homocysteine. III. Cellular function and aging.

  1994cites this paper