The biochemical mechanism accounting for the connective tissue abnormalities in homocystinuria was explored by examining the effects of various amino acids known to accumulate in the plasma of patients with this disease on cross-link formation in collagen. Neutral salt solutions of purified, rat skin collagen, rich in cross-link precursor aldehydes, were polymerized to native type fibrils by incubating at 37°C in the presence of homocysteine, homocystine, or methionine. After the polymerization was completed, each sample was examined for the formation of covalent intermolecular cross-links, assessed indirectly by solubility tests and directly by measuring the cross-link compounds after reduction with tritiated sodium borohydride and hydrolysis.
Andrew H. Kang, Robert L. Trelstad
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Exogenous HSP47: a new collagen specific therapeutic approach
Roberta Besio, Nadia Garibaldi, Alessandra Sala, Francesca Tonelli, Carla Aresi, Elisa Maffioli, Claudio Casali, Camilla Torriani, Marco Biggiogera, Simona Villani, Antonio Rossi, Gabriella Tedeschi, Antonella Forlino |
JCI Insight | 2025 |
Ischemic stroke in young Asians caused by spontaneous cervical artery dissection may be due to slightly increased homocysteine
Lin Z, Huang S, Li W |
Frontiers in Neurology | 2025 |
Inborn errors of amino acid metabolism - from underlying pathophysiology to therapeutic advances.
Ziegler SG, Kim J, Ehmsen JT, Vernon HJ |
Disease models & mechanisms | 2023 |
Nutritional Management and Metabolic Aspects of Hyperhomocysteinemia
MI Waly |
2021 | |
Vitamin B12 status is a risk factor for bone fractures among vegans
R Pawlak |
Medical Hypotheses | 2021 |
Associations of Homocysteine Metabolism With the Risk of Spinal Osteoarthritis Progression in Postmenopausal Women
M Nakano, Y Nakamura, T Urano, A Miyazaki, T Suzuki, K Watanabe, J Takahashi, M Shiraki |
The Journal of clinical endocrinology and metabolism | 2021 |
Proteomic exploration of cystathionine β-synthase deficiency: implications for the clinic
H Jakubowski |
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H Jakubowski |
Physiological reviews | 2019 |
The Effects of Homocysteine on the Skeleton
M Saito, K Marumo |
Current Osteoporosis Reports | 2018 |
Effect of Combination Folic Acid, Vitamin B 6 , and Vitamin B 12 Supplementation on Fracture Risk in Women: A Randomized, Controlled Trial: EFFECTS OF B VITAMINS AND FOLATE ON FRACTURE RISK ON WOMEN
KL Stone, LY Lui, WG Christen, AM Troen, DC Bauer, D Kado, C Schambach, SR Cummings, JA Manson |
Journal of Bone and Mineral Research | 2017 |
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S Vadakedath, V Kandi |
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Moderate hyperhomocysteinemia induced by short-term dietary methionine overload alters bone microarchitecture and collagen features during growth
P Milovanovic, D Hrncic, K Radotic, M Stankovic, D Mutavdzic, D Djonic, A Rasic-Markovic, D Djuric, O Stanojlovic, M Djuric |
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E Feigerlova, L Demarquet, JL Guéant |
Biochimie | 2016 |
Low bone mineral density is a common finding in patients with homocystinuria
DR Weber, C Coughlin, JL Brodsky, K Lindstrom, C Ficicioglu, P Kaplan, CL Freehauf, MA Levine |
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Inborn Metabolic Diseases
JM Saudubray, MR Baumgartner, J Walter |
Inborn Metabolic Diseases | 2016 |
N -Homocysteinylation impairs collagen cross-linking in cystathionine β-synthase-deficient mice: a novel mechanism of connective tissue abnormalities
J Perła-Kajan, O Utyro, M Rusek, A Malinowska, E Sitkiewicz, H Jakubowski |
The FASEB Journal | 2016 |
Effects of Collagen Crosslinking on Bone Material Properties in Health and Disease
M Saito, K Marumo |
Calcified Tissue International | 2015 |
Diabetes, Collagen, and Bone Quality
M Saito, Y Kida, S Kato, K Marumo |
Current Osteoporosis Reports | 2014 |
Clinical Imaging
TJ Mick |
Clinical Imaging | 2014 |
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Proceedings of the Nutrition Society | 2014 |
The Application of a Chemical Determination of N-Homocysteinylation Levels in Developing Mouse Embryos: Implication for Folate Responsive Birth Defects
K Fathe, MD Person, RH Finnell |
The Journal of Nutritional Biochemistry | 2014 |
Association of dietary intake with joint space narrowing and osteophytosis at the knee in Japanese men and women: the ROAD study
S Muraki, T Akune, Y En-yo, M Yoshida, S Tanaka, H Kawaguchi, K Nakamura, H Oka, N Yoshimura |
Modern Rheumatology | 2013 |
Vitamin B12, Folic Acid, and Bone
KM Swart, NM Schoor, P Lips |
Current Osteoporosis Reports | 2013 |
Association of Methylene Tetrahydrofolate Reductase Polymorphism with BMD and Homocysteine in Premenopausal North Indian Women
SK Pandey, A Singh, SK Polipalli, S Gupta, S Kapoor |
Journal of Clinical and Diagnostic Research : JCDR | 2013 |
Bone quality in diabetes
M Saito, K Marumo |
Frontiers in Endocrinology | 2013 |
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M Stolte, J Rüschoff, G Klöppel |
Der Pathologe | 2013 |
Homocysteine in Protein Structure/Function and Human Disease
H Jakubowski |
2013 | |
Vitamin B12, Folic Acid, and Bone
KM Swart, NM van Schoor, P Lips |
Current Osteoporosis Reports | 2013 |
The contribution of collagen crosslinks to bone strength
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BoneKEy Reports | 2012 |
1,25-dihydroxyvitamin D3 influences cellular homocysteine levels in murine preosteoblastic MC3T3-E1 cells by direct regulation of cystathionine β-synthase
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Journal of Bone and Mineral Research | 2011 |
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American journal of physiology. Heart and circulatory physiology | 2011 |
Vascular complications of cystathionine β-synthase deficiency: future directions for homocysteine-to-hydrogen sulfide research
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American journal of physiology. Heart and circulatory physiology | 2010 |
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Biochemical and Biophysical Research Communications | 2010 |
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Gastroenterology | 2010 |
Pulmonary surfactant: an immunological perspective
ZC Chroneos, Z Sever-Chroneos, VL Shepherd |
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology | 2009 |
Collagen cross-links as a determinant of bone quality: a possible explanation for bone fragility in aging, osteoporosis, and diabetes mellitus
M Saito, K Marumo |
Osteoporosis International | 2009 |
Raloxifene ameliorates detrimental enzymatic and nonenzymatic collagen cross-links and bone strength in rabbits with hyperhomocysteinemia
M Saito, K Marumo, S Soshi, Y Kida, C Ushiku, A Shinohara |
Osteoporosis International | 2009 |
The relation of plasma homocysteine to radiographic knee osteoarthritis
M Fayfman, J Niu, YQ Zhang, DT Felson, B Sack, P Aliabadi, J Selhub, DJ Hunter |
Osteoarthritis and Cartilage | 2009 |
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RR McLean, PF Jacques, J Selhub, L Fredman, KL Tucker, EJ Samelson, DP Kiel, LA Cupples, MT Hannan |
The Journal of clinical endocrinology and metabolism | 2008 |
Strontium ranelate decreases plasma homocysteine levels in postmenopausal osteoporotic women
I Bayhan, D Uygur, N Ugurlu, G Ozaksit |
Rheumatology International | 2008 |
New biochemical markers of bone turnover
P Garnero |
IBMS BoneKEy | 2008 |
Hyperhomocysteinemia induces a tissue specific accumulation of homocysteine in bone by collagen binding and adversely affects bone
M Herrmann, A Tami, B Wildemann, M Wolny, A Wagner, H Schorr, O Taban-Shomal, N Umanskaya, S Ross, P Garcia, U Hübner, W Herrmann |
Bone | 2008 |
Homocysteine Toxicity in Connective Tissue: Theories, Old and New
JI Toohey |
Connective Tissue Research | 2008 |
Garner and Klintworth's Pathobiology of Ocular Disease, Third Edition
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Garner and Klintworth's Pathobiology of Ocular Disease, Third Edition | 2008 |
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RR McLean, MT Hannan |
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Effect of Homocysteine on Bone Mineral Density of Rats
F Soyupek, S Cerci, S Yildiz, M Yildiz, B Gumus |
Biological Trace Element Research | 2007 |
The Relationships between Homocysteine, Folate, MTHER and TSER Polymorphism for Osteoporotic Compression Fracture in Postmenopausal Women
DE Shin, DY Cho, HK Yoon, NG Kim, IS Lee |
The Journal of the Korean Orthopaedic Association | 2007 |
Relación entre homocisteína y masa ósea en pacientes alcohólicos
EG Campelo, EG Reimers, FS Fernández, MJ la Pérez, JA Negrín, JV Rodríguez, ER Rodríguez |
Revista Española de Enfermedades Metabólicas Óseas | 2007 |
Lowering homocysteine with B vitamins has no effect on biomarkers of bone turnover in older persons: a 2-y randomized controlled trial
TJ Green, JA McMahon, CM Skeaff, SM Williams, SJ Whiting |
The American journal of clinical nutrition | 2007 |
Homocysteine Enhances Bone Resorption by Stimulation of Osteoclast Formation and Activity Through Increased Intracellular ROS Generation
JM Koh, YS Lee, YS Kim, DJ Kim, HH Kim, JY Park, KU Lee, GS Kim |
Journal of Bone and Mineral Research | 2006 |
Dynamics of Bone and Cartilage Metabolism
JE Mulder, CA Kulak, E Shane |
Dynamics of Bone and Cartilage Metabolism | 2006 |
Homocysteine and Osteoporotic Fracture Risk: A Potential Role for B Vitamins
KD Cashman |
Nutrition Reviews | 2005 |
Relation between homocysteine and biochemical bone turnover markers and bone mineral density in peri- and post-menopausal women
M Herrmann, M Kraenzlin, G Pape, M Sand-Hill, W Herrmann |
Clinical Chemistry and Laboratory Medicine | 2005 |
Relation between homocysteine and B-vitamin status indicators and bone mineral density in older Americans
MS Morris, PF Jacques, J Selhub |
Bone | 2005 |
Homocysteine Levels and the Risk of Osteoporotic Fracture
JB van Meurs, RA Dhonukshe-Rutten, SM Pluijm, M der Klift, R Jonge, J Lindemans, LC de Groot, A Hofman, JC Witteman, JP van Leeuwen, MM Breteler, P Lips, HA Pols, AG Uitterlinden |
New England Journal of Medicine | 2004 |
Homocysteine as a Predictive Factor for Hip Fracture in Older Persons
RR McLean, PF Jacques, J Selhub, KL Tucker, EJ Samelson, KE Broe, MT Hannan, LA Cupples, DP Kiel |
New England Journal of Medicine | 2004 |
Flaws in a Recent Vertebral Artery Dissection Study by Smith et al
AL Rosner |
Journal of Manipulative and Physiological Therapeutics | 2004 |
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AL Rosner |
Journal of Manipulative and Physiological Therapeutics | 2004 |
Methods in Cell Biology
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Folic acid deficiency and homocysteine impair DNA repair in hippocampal neurons and sensitize them to amyloid toxicity in experimental models of Alzheimer's disease
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The Journal of neuroscience : the official journal of the Society for Neuroscience | 2002 |
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Medical Hypotheses | 2001 |
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Molecular Genetics and Metabolism | 2000 |
Clinical Relevance of Hyperhomocysteinaemia in Atherothrombotic Disease
CD A. |
Drugs & Aging | 2000 |
Clinical Relevance of Hyperhomocysteinaemia in Atherothrombotic Disease:
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Drugs & Aging | 2000 |
Animal Models of Aneurysms
PB Dobrin |
Annals of Vascular Surgery | 1999 |
Advances in Protein Chemistry
CM Silva, J Isgaard, MO Thorner |
Advances in Protein Chemistry | 1998 |
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A Majors, LA Ehrhart, EH Pezacka |
Arteriosclerosis, thrombosis, and vascular biology | 1997 |
Homocysteine Metabolism: From Basic Science to Clinical Medicine
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1997 | |
Biological Chemistry of Thiols in the Vasculature and in Vascular-related Disease
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Nutrition Reviews | 1996 |
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Inhibition of chick embryo lysyl oxidase by various lathyrogens and the antagonistic effect of pyridoxal
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Atherosclerosis | 1989 |
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Journal of Chromatography B Biomedical Sciences and Applications | 1989 |
Molecular and clinical aspects of connective tissue
T Krieg, R Hein, A Hatamochi, M Aumailley |
European Journal of Clinical Investigation | 1988 |
Contemporary Internal Medicine
J Bowen, EL Mazzaferri |
1988 | |
Studies on collagen metabolism in the Marfan syndrome
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European Journal of Clinical Investigation | 1987 |
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The American Journal of Medicine | 1987 |
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Acta Pathologica Microbiologica Scandinavica Series A :Pathology | 1983 |
Mechanical properties of the tibia from chickens with idiopathic scoliosis
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Journal of Biomechanics | 1983 |
Rheumatologie A: Allgemeiner Teil
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Advances in Food Research
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Disorders of Mineral Metabolism
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Disorders of Mineral Metabolism | 1982 |
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The Journal of biological chemistry | 1982 |
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Biochimica et Biophysica Acta (BBA) - Protein Structure | 1979 |
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The Biosynthesis of Collagen and Its Disorders
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New England Journal of Medicine | 1979 |
Biochemical Disorders of the Skeleton
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Diseases of the collagen molecule
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Journal of clinical pathology. Supplement (Royal College of Pathologists) | 1978 |
Metabolic Bone Disease
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Metabolic Bone Disease | 1977 |
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DP Brenton |
Postgraduate medical journal | 1977 |
Collagen cross-linking. Effect of D-penicillamine on cross-linking in vitro
RC Siegel |
The Journal of biological chemistry | 1977 |
DEFECTS IN THE BIOCHEMISTRY OF COLLAGEN IN DISEASES OF CONNECTIVE TISSUE
J Uitto, JR Lichtenstein |
Journal of Investigative Dermatology | 1976 |
BIOCHEMTCAL CHANGES IN THE BRAIN OF EXPERIMENTAL ANIMALS IN RESPONSE TO ELEVATED PLASMA HOMOCYSTINE AND METHIONINE
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Journal of Neurochemistry | 1976 |
CYTOCHROMES IN BRAIN MITOCHONDRIA FROM LAMBS WITH ENZOOTIC ATAXIA
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Journal of Neurochemistry | 1976 |
Effect of Induced Elevated Plasma Levels of Homocystine and Methionine in Rats on Collagen and Elastin Structures
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Connective Tissue Research | 1976 |
Biochemistry of Collagen
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1976 | |
Homocysteine theory of arteriosclerosis
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Atherosclerosis | 1975 |
Metabolism of Sulfur Compounds
IG Leder |
Metabolism of Sulfur Compounds | 1975 |
Inborn errors of metabolism. Vitamin-responsive genetic disease
SH Mudd |
Journal of clinical pathology. Supplement (Royal College of Pathologists) | 1974 |
A sex-linked defect in the cross-linking of collagen and elastin associated with the mottled locus in mice
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Journal of Experimental Medicine | 1974 |
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Biological significance of the intermolecular crosslinks of collagen
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DR Eyre |
Developmental Medicine & Child Neurology | 1974 |
Vitamin-responsive genetic disease
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Journal of clinical pathology | 1974 |
Interaction of an Active Glycopeptide from Chick Skin Collagen (αl-CB5) with Human Platelets
AH Kang, EH Beachey, RL Katzman |
The Journal of biological chemistry | 1974 |
Discussion
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Proceedings of the Physical Society | 1943 |