inborn errors metal metabolism

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Top Publications

  1. ncbi Effect of copper and diethyldithiocarbamate combination therapy on the macular mouse, an animal model of Menkes disease
    H Kodama
    Department of Pediatrics, Teikyo University School of Medicine, 11 1, Kaga 2, Itabashi ku, Tokyo, 176 8605, Japan
    J Inherit Metab Dis 28:971-8. 2005
  2. ncbi The toxic milk mutation, tx, which results in a condition resembling Wilson disease in humans, is linked to mouse chromosome 8
    H Rauch
    Biology Department, University of Massachusetts, Amherst 01003, USA
    Genomics 29:551-2. 1995
  3. doi Concurrent hepatic copper toxicosis and Fanconi's syndrome in a dog
    T L Hill
    Department of Clinical Sciences, College of Veterinary Medicine, North Carolina State University, Raleigh, NC 27606, USA
    J Vet Intern Med 22:219-22. 2008
  4. ncbi The ferroportin disease
    Antonello Pietrangelo
    Center for Hemochromatosis, Department of Internal Medicine, University of Modena and Reggio Emilia, Modena 41100, Italy
    Blood Cells Mol Dis 32:131-8. 2004
  5. ncbi Copper in medicine
    George J Brewer
    Department of Human Genetics, University of Michigan Medical School, 5024 Kresge Building II, Ann Arbor, MI 48109 0534, USA
    Curr Opin Chem Biol 7:207-12. 2003
  6. pmc Targeted gene disruption reveals an essential role for ceruloplasmin in cellular iron efflux
    Z L Harris
    Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA
    Proc Natl Acad Sci U S A 96:10812-7. 1999
  7. ncbi Lipid and myelin abnormalities of brain in the crinkled mouse
    L L Theriault
    Proc Soc Exp Biol Med 155:549-53. 1977
  8. ncbi Copper transporting P-type ATPases and human disease
    Diane W Cox
    Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada
    J Bioenerg Biomembr 34:333-8. 2002
  9. ncbi Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients
    Jean L Johnson
    Department of Biochemistry, Duke University Medical Center, Durham, NC 27710, USA
    Hum Mutat 20:74. 2002
  10. ncbi An update on the molecular genetics of hepatocellular carcinoma
    Arief Suriawinata
    Department of Pathology, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire, USA
    Semin Liver Dis 24:77-88. 2004

Scientific Experts

Detail Information

Publications75

  1. ncbi Effect of copper and diethyldithiocarbamate combination therapy on the macular mouse, an animal model of Menkes disease
    H Kodama
    Department of Pediatrics, Teikyo University School of Medicine, 11 1, Kaga 2, Itabashi ku, Tokyo, 176 8605, Japan
    J Inherit Metab Dis 28:971-8. 2005
    ....
  2. ncbi The toxic milk mutation, tx, which results in a condition resembling Wilson disease in humans, is linked to mouse chromosome 8
    H Rauch
    Biology Department, University of Massachusetts, Amherst 01003, USA
    Genomics 29:551-2. 1995
  3. doi Concurrent hepatic copper toxicosis and Fanconi's syndrome in a dog
    T L Hill
    Department of Clinical Sciences, College of Veterinary Medicine, North Carolina State University, Raleigh, NC 27606, USA
    J Vet Intern Med 22:219-22. 2008
  4. ncbi The ferroportin disease
    Antonello Pietrangelo
    Center for Hemochromatosis, Department of Internal Medicine, University of Modena and Reggio Emilia, Modena 41100, Italy
    Blood Cells Mol Dis 32:131-8. 2004
    ..Now, the disorder appears to be the most common cause of hereditary iron overload beyond HFE hemochromatosis...
  5. ncbi Copper in medicine
    George J Brewer
    Department of Human Genetics, University of Michigan Medical School, 5024 Kresge Building II, Ann Arbor, MI 48109 0534, USA
    Curr Opin Chem Biol 7:207-12. 2003
    ..There have also been recent developments in the genetic and non-genetic abnormalities of copper, including the finding of new copper-related genes that potentially could cause disease if mutated...
  6. pmc Targeted gene disruption reveals an essential role for ceruloplasmin in cellular iron efflux
    Z L Harris
    Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA
    Proc Natl Acad Sci U S A 96:10812-7. 1999
    ..Our findings reveal an essential physiologic role for ceruloplasmin in determining the rate of iron efflux from cells with mobilizable iron stores...
  7. ncbi Lipid and myelin abnormalities of brain in the crinkled mouse
    L L Theriault
    Proc Soc Exp Biol Med 155:549-53. 1977
  8. ncbi Copper transporting P-type ATPases and human disease
    Diane W Cox
    Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada
    J Bioenerg Biomembr 34:333-8. 2002
    ..Tissue expression studies of the copper ATPases and their copper chaperone ATOX1 indicate that there is not complete overlap in expression. Other chaperones may be important for the transport of copper into ATP7A and ATP7B...
  9. ncbi Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients
    Jean L Johnson
    Department of Biochemistry, Duke University Medical Center, Durham, NC 27710, USA
    Hum Mutat 20:74. 2002
    ..This mutation, however, is downstream of a frameshift mutation and is therefore not the causative mutation in this individual...
  10. ncbi An update on the molecular genetics of hepatocellular carcinoma
    Arief Suriawinata
    Department of Pathology, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire, USA
    Semin Liver Dis 24:77-88. 2004
    ..To date, information that has accumulated for the past several decades is still incomplete, and we still are faced with a great challenge in deciphering the molecular mechanisms of HCCs...
  11. ncbi Inherited Na transport disorders: the taming of the syndromes
    V Matti Vehaskari
    Department of Pediatrics, Louisiana State University Health Sciences Center, New Orleans, Louisiana 70118, USA
    Curr Opin Pediatr 16:182-7. 2004
    ..This review discusses the recent findings that have expanded our knowledge and may impact clinical decision-making...
  12. ncbi Familial hyperzincaemia: a rare entity
    M A Selimoglu
    Int J Clin Pract 60:108-9. 2006
  13. ncbi Effects of cyclosporine A in hyperzincaemia and hypercalprotectinaemia
    Tokio Sugiura
    Department of Pediatrics, Neonatology and Congenital Disorders, Nagoya City University, Graduate School of Medical Sciences, Nagoya, Japan
    Acta Paediatr 95:857-60. 2006
    ..CONCLUSION: Cyclosporine A is effective for hyperzincaemia and hypercalprotectinaemia. Serum interleukin -8 may be useful in assessing the therapeutic effects of cyclosporine A in hyperzincaemia and hypercalprotectinaemia...
  14. ncbi The HAG mechanism: a molecular rationale for the therapeutic application of iron chelators in human diseases involving the 2-oxoacid utilizing dioxygenases
    Hartmut M Hanauske-Abel
    Section on Matrix Biology, New Jersey Medical School, Newark, USA
    Curr Med Chem 10:1005-19. 2003
    ..The HAG mechanism also lends itself to the development of novel, man-made biocatalysts...
  15. ncbi Evaluation of bone mineral density and bone metabolism in children with multiple bone fractures
    Izabela Michałus
    Department of Propedeutics of Paediatrics, Medical University of Lodz
    Ortop Traumatol Rehabil 10:602-12. 2008
    ..The aim of the study was to carry out a comprehensive analysis of determinants of multiple bone fractures in children with regard to densitometric indices and markers of bone metabolism...
  16. ncbi Microelements and inherited metabolic diseases
    Eliska Marklová
    Charles University in Prague, Faculty of Medicine in Hradec Kralove, Department of Paediatrics, Czech Republic
    Acta Medica (Hradec Kralove) 45:129-33. 2002
    ....
  17. ncbi Aceruloplasminemia, an inherited disorder of iron metabolism
    Hiroaki Miyajima
    First Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu University School of Medicine, 1 20 1 Handayama, Hamamatsu 431 3192, Japan
    Biometals 16:205-13. 2003
    ..These findings suggest that iron-mediated free radicals causes neuronal cell damage through lipid peroxidation and mitochondrial dysfunction in aceruloplasminemia brains...
  18. ncbi Yeast, a model organism for iron and copper metabolism studies
    Jeane De Freitas
    Department of Nutritional Science, University of California, Berkeley, California, 94720, USA
    Biometals 16:185-97. 2003
    ..In this review, we will present an overview of the current understanding of iron and copper metabolism in yeast, and the utility of yeast as a model organism to investigate iron and copper metabolism in mammals and plants...
  19. ncbi Frequencies of the hereditary hemochromatosis allele in different populations. Comparison of previous phenotypic methods and novel genotypic methods
    Nils Milman
    Department of Medicine B, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
    Int J Hematol 77:48-54. 2003
    ..The frequencies of the hereditary hemochromatosis allele were compared for different populations assessed by previous phenotypic methods and the present genotypic methods...
  20. doi Copper-associated liver diseases
    Gaby Hoffmann
    Department of Clinical Sciences of Companion Animals, Utrecht University, P O Box 80 154, Utrecht NL 3508TD, The Netherlands
    Vet Clin North Am Small Anim Pract 39:489-511. 2009
    ..Diagnosis and treatment of copper-associated hepatitis are described, and breed-specific characteristics of the disease are explained. A literature review references publications about the disease in companion animals...
  21. ncbi Genetic disorders affecting proteins of iron and copper metabolism: clinical implications
    Hiroaki Miyajima
    First Department of Medicine, Hamamatsu University School of Medicine
    Intern Med 41:762-9. 2002
    ..Menkes disease and Wilson's disease are inherited disorders of copper metabolism resulting from the absence or dysfunction of homologous copper-transporting ATPases...
  22. ncbi The copper-iron connection: hereditary aceruloplasminemia
    Thalia Nittis
    Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA
    Semin Hematol 39:282-9. 2002
    ..Characterization of this disorder reveals an essential role for ceruloplasmin in determining the rate of iron efflux from cells with mobilizable iron stores and provides new insights into the mechanisms of human iron metabolism...
  23. ncbi Rare causes of hereditary iron overload
    Prem Ponka
    Departments of Physiology and Medicine, McGill University, Montreal, Quebec, Canada
    Semin Hematol 39:249-62. 2002
    ..The defect in PANK2 is predicted to cause the accumulation of cysteine, which binds iron and causes oxidative stress in the iron-rich globus pallidus...
  24. ncbi Introduction: hereditary disorders of iron metabolism
    James P Kushner
    Division of Hematology, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
    Semin Hematol 39:217-8. 2002
  25. doi [From gene to disease: copper-transporting P ATPases alteration]
    C Garcia Hejl
    École du Val de Grâce, 1 Place Alphonse Laveran, 75005 Paris, France
    Pathol Biol (Paris) 57:272-9. 2009
    ..This article focuses on the molecular pathogenesis of Wilson and Menkes disease, and discusses how causing mutations are correlated with molecular defects and disease phenotypes...
  26. ncbi Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency
    J O Sass
    Department of Pediatrics, University of Innsbruck, Austria
    J Inherit Metab Dis 26:80-2. 2003
  27. ncbi Lack of mutations in CYP2D6 and CYP27 in patients with apparent deficiency of vitamin D 25-hydroxylase
    Chin Jia Lin
    Department of Pediatrics, University of California, San Francisco, CA 94143 0978, USA
    Mol Genet Metab 80:469-72. 2003
    ..25-Hydroxylation occurs in both mitochondria and microsomes. The existence genes encoding distinct enzymes would provide genetic redundancy, explaining the rarity of apparent vitamin D 25-hydroxylase deficiency...
  28. ncbi Hyperphosphatasia with neurologic deficit: a pyridoxine-responsive seizure disorder?
    Miles D Thompson
    Department of Laboratory Medicine and Pathobiology, University of Toronto, Ontario, Canada
    Pediatr Neurol 34:303-7. 2006
    ..Conversely, pyridoxine challenge should be considered in cases of hyperphosphatasia with seizures and neurologic deficit...
  29. pmc Cyclosporin and Timothy syndrome increase mode 2 gating of CaV1.2 calcium channels through aberrant phosphorylation of S6 helices
    Christian Erxleben
    Laboratory of Neurobiology, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA
    Proc Natl Acad Sci U S A 103:3932-7. 2006
    ..We propose that aberrant phosphorylation, or "phosphorylopathy," of the CaV1.2 channel protein contributes to the excitotoxicity associated with Timothy syndrome and with chronic cyclosporin treatment of transplant patients...
  30. ncbi Magnetic resonance imaging to identify classic and nonclassic forms of ferroportin disease
    Antonello Pietrangelo
    Center for Hemochromatosis, Department of Internal Medicine, University Hospital of Modena and Reggio Emilia, Policlinico, Via del Pozzo 71 41100 Modena, Italy
    Blood Cells Mol Dis 37:192-6. 2006
    ..In conclusion, MRI is a useful non-invasive diagnostic tool to categorize and diagnose the disorder, monitor the status of iron depletion and gain insights on its natural history and management...
  31. ncbi The many faces of the copper metabolism protein MURR1/COMMD1
    P De Bie
    Complex Genetics Section, DBG Department of Medical Genetics, University Medical Center, 3508 TA Utrecht, The Netherlands
    J Hered 96:803-11. 2005
    ..We outline the possible mechanisms through which COMMD1 exerts these newly identified functions...
  32. ncbi Iron trafficking in the mitochondrion: novel pathways revealed by disease
    Ian Napier
    Children s Cancer Institute Australia for Medical Research, Iron Metabolism and Chelation Program, PO Box 81, High St, Randwick, Sydney, New South Wales, 2031 Australia
    Blood 105:1867-74. 2005
    ..In this review, we suggest a model of mitochondrial Fe processing that may account for the pathology observed in these disease states...
  33. ncbi Aceruloplasminemia: a novel mutation in a family with marked phenotypic variability
    Alfonso Fasano
    Istituto di Neurologia, Universita Cattolica del Sacro Cuore, Roma, Italy
    Mov Disord 23:751-5. 2008
    ..Possible physiopathological bases of these intrafamilial phenotypic variations are discussed...
  34. ncbi Hematologically important mutations: iron storage diseases
    Lisa Beutler
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 33:40-4. 2004
  35. ncbi Prevalence of the exon 2 deletion of the COMMD1 gene in Australian Bedlington terriers
    Shin Aeh Lee
    School of Veterinary Medicine, Kangwon National University, Chuncheon 200 701, South Korea
    J Genet 86:289-91. 2007
  36. ncbi Inherited canine copper toxicosis in Australian Bedlington Terriers
    Changbaig Hyun
    Victor Chang Cardiac Research Institute, St Vincent Hospital, 384 Victoria St, Darlinghurst, Sydney, NSW 2010, Australia
    J Vet Sci 5:19-28. 2004
    ..The general findings related to CT-BT in this study was similar to those previously reported except few differences in histopathology and electron microscopy...
  37. ncbi Inherited forms of renal hypomagnesemia: an update
    Nine V A M Knoers
    Department of Human Genetics 849, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Pediatr Nephrol 24:697-705. 2009
    ..This is yet another example of the importance of studying rare disorders in order to unravel physiological and pathophysiological processes in the human body...
  38. ncbi Aceruloplasminemia, an iron metabolic disorder
    Hiroaki Miyajima
    First Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan
    Neuropathology 23:345-50. 2003
    ..The lack of ceruloplasmin may primarily damage astrocytes in the aceruloplasminemia brains through lipid peroxidation. Ceruloplasmin may play an essential role in neuronal survival in the central nervous system...
  39. doi Molecular basis of hereditary iron homeostasis defects
    Monika Horvathova
    Department of Biology, Palacky University, Hnevotinska 3, Olomouc 775 15, Czech Republic
    Hematology 15:96-111. 2010
    ..In addition, we will discuss molecular pathophysiology with implications for novel therapies of selected hereditary defects of iron homeostasis...
  40. ncbi Follow-up of five patients with FHHNC due to mutations in the Paracellin-1 gene
    Matthias T F Wolf
    , , 91054 Erlangen, Germany
    Pediatr Nephrol 17:602-8. 2002
    ..Early treatment with vitamin D and calcium was essential to maintain growth. Adequate treatment allows for a normal height and pubertal development...
  41. ncbi Metal transporters and disease
    Nancy C Andrews
    HHMI Hematology, Enders 720, Children s Hospital, 300 Longwood Avenue, Boston, Massachusetts 02115, USA
    Curr Opin Chem Biol 6:181-6. 2002
    ..This review summarizes recently described steps in the transport of these metals, and explores how defects in these steps lead to human diseases including hemochromatosis, Menkes disease and Wilson disease...
  42. ncbi Age-dependent and region-specific differences in the distribution of trace elements in 7 brain regions of Long-Evans Cinnamon (LEC) rats with hereditary abnormal copper metabolism
    T Saito
    Department of Hygiene and Preventive Medicine, Hokkaido University School of Medicine, Sapporo, Japan
    Brain Res 695:240-4. 1995
    ..These results showed that abnormal distributions of trace elements exist in the LEC rat brain before the onset of jaundice...
  43. ncbi Family investigations in idiopathic hypercalciuria
    F Harangi
    Department of Paediatrics, University Medical School, , Hungary
    Eur J Pediatr 152:64-8. 1993
    ..RH is most probably inherited as an autosomal dominant trait (or has at least an autosomal dominant form), whereas AH is more likely to be associated with nutritional factors...
  44. ncbi Biliary excretion of copper in Fischer rats treated with copper salt and in Long-Evans cinnamon (LEC) rats with an inherently abnormal copper metabolism
    N Sugawara
    Department of Public Health, School of Medicine, Sapporo Medical University, Japan
    Biol Trace Elem Res 46:125-34. 1994
    ..Our results suggest that reduced biliary Cu excretion in LEC rats is not related to the small molecules, and that Cu cannot be excreted in the form of macromolecules in rats to decrease Cu from the Cu-loaded liver...
  45. ncbi Familial hypomagnesaemia--hypercalciuria leading to end-stage renal failure
    J C Nicholson
    Department of Nephrology, Royal Children s Hospital, Parkville, Victoria, Australia
    Pediatr Nephrol 9:74-6. 1995
    ..This condition is a previously unreported cause of end-stage renal failure in childhood, and this report suggests that transplantation from heterozygous parental donors can be successfully undertaken without recurrence of the syndrome...
  46. pmc Aceruloplasminemia: molecular characterization of this disorder of iron metabolism
    Z L Harris
    Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA
    Proc Natl Acad Sci U S A 92:2539-43. 1995
    ..The clinical and laboratory findings suggest that additional patients with movement disorders and nonclassical Wilson disease should be examined for ceruloplasmin gene mutations...
  47. ncbi Toxic milk, a new mutation affecting cooper metabolism in the mouse
    H Rauch
    J Hered 74:141-4. 1983
    ..Mutants themselves amass extraordinarily large concentrations of hepatic copper that ultimately leads to liver disease. Erroneous hepatic copper metabolism is further evidenced by reduced ceruloplasmin activity...
  48. ncbi Congenital copper deficiency: copper therapy and dopamine-beta-hydroxylase activity in the mottled (brindled) mouse
    G Wenk
    J Neurochem 41:1648-52. 1983
    ..The present study provides insight into the long-term neurochemical changes resulting from a possible treatment regimen for Menkes' kinky hair syndrome...
  49. ncbi Zinc metabolism in lethal-milk mice. Otolith, lactation, and aging effects
    L C Erway
    J Hered 75:480-4. 1984
    ..Possible roles of metallothionein in zinc and copper metabolism are discussed in regard to the pleiotropic effects of the lethal-milk mutation...
  50. ncbi Primary defect in copper transport underlies mottled mutants in the mouse
    D M Hunt
    Nature 249:852-4. 1974
  51. ncbi Abnormal hepatic copper storage in a teleost fish (Morone americana)
    T E Bunton
    Division of Comparative Medicine, Johns Hopkins University School of Medicine, Baltimore, MD
    Vet Pathol 24:515-24. 1987
    ..This study indicates that white perch may be a model for studying effects of excessive copper accumulation and cellular mechanisms which control copper kinetics...
  52. ncbi Use of 2,3,2-tetramine as a hepatic copper chelating agent for treatment of copper hepatotoxicosis in Bedlington terriers
    D C Twedt
    Department of Clinical Sciences, Colorado State University, Fort Collins 80523
    J Am Vet Med Assoc 192:52-6. 1988
    ..Clinical or laboratory evidence of 2,3,2-tetramine toxicosis was not detected during treatment. These findings indicated that in affected Bedlington Terriers, 2,3,2-tetramine was a safe and rapid chelating agent of hepatic Cu...
  53. ncbi Inborn errors of trace metal metabolism
    P J Aggett
    Child Health and Nutrition, University of Aberdeen, Forester Hill
    Br J Hosp Med 38:190-6, 200-1. 1987
    ..Some of these respond to treatment and prophylactic management while for some intractable conditions prenatal diagnosis is possible. All these abnormalities provide valuable insight into the normal metabolism of these vital elements...
  54. ncbi Hyperlipidemias, lipid storage disorders, metal storage disorders, and ochronosis
    P J Rooney
    McMaster University, Hamilton, Ontario, Canada
    Curr Opin Rheumatol 3:166-71. 1991
    ....
  55. ncbi Developmental variation in copper, zinc and metallothionein mRNA in brindled mutant and nutritionally copper deficient mice
    J F Mercer
    Scobie and Claire Mackinnon Trace Element Laboratory, Murdoch Institute for Research into Birth Defects, Parkville, Victoria, Australia
    Biochim Biophys Acta 1097:205-11. 1991
    ....
  56. ncbi Genetic defects of iron transport
    R M Bannerman
    Fed Proc 35:2281-5. 1976
    ....
  57. ncbi Binding of Cu to metallothionein in tissues of the LEC rat with inherited abnormal copper accumulation
    D Klein
    Institute of Toxicology and Environmental Hygiene, Technical University, , Germany
    Arch Toxicol 71:340-3. 1997
    ..This non-MT bound Cu showed good correlation with the total cytosolic Cu content, and might play a crucial role in the pathogenesis of Cu toxicosis...
  58. ncbi Nephrocalcinosis in three siblings with idiopathic hypercalciuria
    P Eggert
    , Kiel, Germany
    Pediatr Nephrol 12:144-6. 1998
    ..Moreover, the fact that three of six siblings are affected raises the question of whether the renal form of IH is genetically distinct from other forms of IH...
  59. ncbi Iron and copper transport in yeast and its relevance to human disease
    C Askwith
    Department of Pathology, University of Utah, Salt Lake City 84132, USA
    Trends Biochem Sci 23:135-8. 1998
    ..The mechanisms of iron and copper transport are remarkably conserved between yeast and humans. Studies of the yeast homologs of human disease genes involved in metal homeostasis have shed light on the pathophysiology of these disorders...
  60. ncbi H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers
    Maria Antonietta Melis
    Dipartimento Scienze Biomediche e Biotecnologie, Sezione Clinica e Biologia dell Età Evolutiva, Universita degli Studi di Cagliari, Italy
    Haematologica 87:242-5. 2002
    ..The aim of this study was to evaluate the effect of the H63D mutation on the ferritin levels of beta-thalassemia carriers...
  61. ncbi [Zinc and copper in diseases of the digestive tract] ]
    A Záková
    Interní gastroenterologická klinika FN Brno, pracoviste Bohunice
    Vnitr Lek 48:22-6. 2002
    ..In practice we are faced in particular with secondary causes of impaired zinc or copper levels, e.g. in chronic diarrhoeal conditions, coeliac disease, chronic pancreatitis and others...
  62. pmc A new neurological entity manifesting as involuntary movements and dysarthria with possible abnormal copper metabolism
    A Tagawa
    Department of Neurology, Teikyo University School of Medicine, Ichihara Hospital, 3426 3 Anesaki, Ichihara City, Chiba 299 0111, Japan
    J Neurol Neurosurg Psychiatry 71:780-3. 2001
    ....
  63. ncbi ATP6H, a subunit of vacuolar ATPase involved in metal transport: evaluation in canine copper toxicosis
    M Nanji
    Department of Medical Genetics, 8 39 Medical Sciences Building, University of Alberta, Edmonton, Alberta, Canada T6G 2H7
    Mamm Genome 12:617-21. 2001
    ..We have therefore excluded canine ATP6H as a candidate gene for canine copper toxicosis, indicating that some other unidentified gene is responsible for this copper storage disease...
  64. ncbi Iatrogenic copper deficiency associated with long-term copper chelation for treatment of copper storage disease in a Bedlington Terrier
    M A Seguin
    Department of Clinical Sciences, College of Veterinary Medicine, North Carolina State University, Raleigh 27606, USA
    J Am Vet Med Assoc 218:1593-7, 1580. 2001
    ..Serum and hair copper concentrations were also low. Chelation and dietary copper restriction were tapered and discontinued. Clinical signs and all clinicopathologic abnormalities improved during a period of several months...
  65. ncbi Diagnostic potential of histochemical demonstration for copper-orcein stain
    S Sethi
    Department of Pathology, Lady Hardinge Medical College, New Delhi
    J Indian Med Assoc 98:434-5, 438. 2000
    ..Variable copper content in the same histological grade of the disease could be due to individual factors such as genetic milieu which determine the amount of copper liver can store without toxicity...
  66. ncbi Microsatellite marker C04107 as a diagnostic marker for copper toxicosis in the Danish population of Bedlington terriers
    H F Proschowsky
    Department of Animal Science and Health, The Royal Veterinary and Agricultural University, Frederiksberg, Denmark
    Acta Vet Scand 41:345-50. 2000
    ..Thus, the marker can be used in a diagnostic test for copper toxicosis in Denmark...
  67. ncbi Comparison of hypocalcemic hypercalciuria between patients with idiopathic hypoparathyroidism and those with gain-of-function mutations in the calcium-sensing receptor: is it possible to differentiate the two disorders?
    M Yamamoto
    Third Department of Internal Medicine, National Defense Medical College, Saitama, Japan
    J Clin Endocrinol Metab 85:4583-91. 2000
    ....
  68. ncbi Hereditary ceruloplasmin deficiency increases advanced glycation end products in the brain
    K Tajima
    Third Department of Internal Medicine, Yamagata University School of Medicine, Japan
    Neurology 53:619-22. 1999
    ..These data suggest that ceruloplasmin plays an important role in the protection of neurons against oxidative stress associated with iron metabolism...
  69. ncbi Estimation of the gene frequency of aceruloplasminemia in Japan
    H Miyajima
    First Department of Medicine, Hamamatsu University School of Medicine, Japan
    Neurology 53:617-9. 1999
    ..The gene frequency was 70/100,000. In Japan, the incidence of aceruloplasminemia was estimated to be approximately 1 per 2,000,000 in the case of nonconsanguineous marriages...
  70. ncbi Inherited disorders of iron metabolism
    M Fodinger
    Department of Laboratory Medicine, University of Vienna, Austria
    Kidney Int Suppl 69:S22-34. 1999
    ..This review focuses on the most recent advances in the field of hereditary disorders of iron metabolism and discusses their potential implications for nephrologists...
  71. ncbi Genetic mapping of the copper toxicosis locus in Bedlington terriers to dog chromosome 10, in a region syntenic to human chromosome region 2p13-p16
    B J van de Sluis
    Department of Human Genetics, Utrecht University, PO Box 80030, 3508 TA Utrecht, The Netherlands
    Hum Mol Genet 8:501-7. 1999
    ..2-22.5. A transcribed sequence identified from the C04107-containing BAC was found to be homologous to a gene expressed from human chromosome 2p13-p16, a region devoid of any positional candidate genes...
  72. pmc Hereditary isolated renal magnesium loss maps to chromosome 11q23
    I C Meij
    Department of Pediatrics, University Hospital Nijmegen, Nijmegen, The Netherlands
    Am J Hum Genet 64:180-8. 1999
    ..We conclude that this region encompasses a gene, involved in renal magnesium handling, that is mutated in our patients and is different from the gene involved in intestinal magnesium handling...
  73. ncbi [Mice with mottled mutation--a model for defective copper metabolism in humans]
    M Lenartowicz
    , , Krakowie
    Postepy Hig Med Dosw 52:527-41. 1998
    ..In human Menkes disease caused by X-linked Atp7a mutant gene leads to death in early childhood. Because of is 89% of homology between Atp7aMo gene and Atp7a locus in human, mottled mutations are an excellent model for Menkes disease...
  74. ncbi Abnormal cellular copper metabolism in the blotchy mouse
    B Starcher
    J Nutr 108:1229-33. 1978
    ..Copper accumulated in fibroblasts cultured from these mutants to values that were five times normal. The accumulation of copper in the fibroblasts was associated with a protein of approximately 12,000 molecular weight...
  75. ncbi Copper associated acute hepatic failure in a dog
    L J Noaker
    Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, Philadelphia 19104 6010, USA
    J Am Vet Med Assoc 214:1502-6, 1495. 1999
    ..Primary copper storage disease was suspected on the basis of histologic findings and high copper concentration in the liver...

Research Grants3

  1. PHASE III TRIAL OF TETRATHIOMOLYBDATE IN PRIMARY BILIAR*
    George Brewer; Fiscal Year: 2005
    ..Abstract Not Provided ..
  2. PHASE III TRIAL OF TETRATHIOMOLYBDATE IN PRIMARY BILIAR*
    George Brewer; Fiscal Year: 2006
    ..Abstract Not Provided ..
  3. PHASE III TRIAL OF TETRATHIOMOLYBDATE IN PRIMARY BILIAR*
    George Brewer; Fiscal Year: 2007
    ..Abstract Not Provided ..