ATP7A

Summary

Gene Symbol: ATP7A
Description: ATPase copper transporting alpha
Alias: DSMAX, MNK, SMAX3, copper-transporting ATPase 1, ATPase, Cu++ transporting, alpha polypeptide, Cu++-transporting P-type ATPase, Menkes disease-associated protein, copper pump 1
Species: human

Top Publications

  1. pmc A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21
    R I Takata
    J Med Genet 41:224-9. 2004
  2. pmc Hormonal regulation of the Menkes and Wilson copper-transporting ATPases in human placental Jeg-3 cells
    Belinda Hardman
    Centre for Cellular and Molecular Biology, School of Life and Environmental Sciences, Deakin University, Melbourne Campus, 221 Burwood Highway, Burwood, Victoria 3125, Australia
    Biochem J 402:241-50. 2007
  3. ncbi Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus
    S G Kaler
    Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892
    Nat Genet 8:195-202. 1994
  4. pmc Diverse mutations in patients with Menkes disease often lead to exon skipping
    S Das
    Department of Medicine, University of California, San Francisco
    Am J Hum Genet 55:883-9. 1994
  5. ncbi Early copper therapy in classic Menkes disease patients with a novel splicing mutation
    S G Kaler
    Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1424, USA
    Ann Neurol 38:921-8. 1995
  6. pmc Biochemical characterization and intracellular localization of the Menkes disease protein
    Y Yamaguchi
    Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA
    Proc Natl Acad Sci U S A 93:14030-5. 1996
  7. pmc Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking
    M J Petris
    Department of Genetics, University of Melbourne, Parkville, Victoria, Australia
    EMBO J 15:6084-95. 1996
  8. pmc Identification of point mutations in 41 unrelated patients affected with Menkes disease
    Z Tumer
    The John F Kennedy Institute, Copenhagen, Denmark
    Am J Hum Genet 60:63-71. 1997
  9. pmc A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family
    N Ronce
    Am J Hum Genet 61:233-8. 1997
  10. ncbi Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome
    M Qi
    Department of Pathology, University of Washington, Seattle, WA 98195 7470, USA
    Hum Mol Genet 7:465-9. 1998

Research Grants

  1. Mechanisms of Homeostatic Control of Copper in Tissues
    LAWRENCE WILSON GRAY; Fiscal Year: 2011
  2. Michael J Petris; Fiscal Year: 2016
  3. Svetlana Lutsenko; Fiscal Year: 2016
  4. Copper Transport Mechanism of Menkes disease protein and Wilson disease protein
    AMANDA NELL BARRY; Fiscal Year: 2010
  5. Iron and copper transporter trafficking in healthy and diseased melanocytes
    Michael Marks; Fiscal Year: 2007
  6. Menkes protein:copper transport in the pituitary
    TAMI STEVESON; Fiscal Year: 2002
  7. MOLECULAR BIOLOGY OF THE MENKES SYNDROME GENE
    Thomas Glover; Fiscal Year: 2000
  8. Excessive Copper Levels Disrupt Hepatic Nuclear Receptor Function
    Clavia Ruth Wooton-Kee; Fiscal Year: 2011
  9. Stephen B Howell; Fiscal Year: 2014
  10. James F Collins; Fiscal Year: 2016

Detail Information

Publications211 found, 100 shown here

  1. pmc A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21
    R I Takata
    J Med Genet 41:224-9. 2004
  2. pmc Hormonal regulation of the Menkes and Wilson copper-transporting ATPases in human placental Jeg-3 cells
    Belinda Hardman
    Centre for Cellular and Molecular Biology, School of Life and Environmental Sciences, Deakin University, Melbourne Campus, 221 Burwood Highway, Burwood, Victoria 3125, Australia
    Biochem J 402:241-50. 2007
    ..Two copper-transporting ATPases, Menkes (ATP7A; MNK) and Wilson (ATP7B; WND), are expressed in the placenta and both are involved in placental copper transport, ..
  3. ncbi Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus
    S G Kaler
    Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892
    Nat Genet 8:195-202. 1994
    We have found mutations in the Menkes disease gene (MNK) which impair, but do not abolish, correct mRNA splicing in patients with less severe clinical phenotypes...
  4. pmc Diverse mutations in patients with Menkes disease often lead to exon skipping
    S Das
    Department of Medicine, University of California, San Francisco
    Am J Hum Genet 55:883-9. 1994
    Fibroblast cultures from 12 unrelated patients with classical Menkes disease were analyzed for mutations in the MNK gene, by reverse transcription-PCR (RT-PCR) and chemical cleavage mismatch detection...
  5. ncbi Early copper therapy in classic Menkes disease patients with a novel splicing mutation
    S G Kaler
    Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1424, USA
    Ann Neurol 38:921-8. 1995
    ....
  6. pmc Biochemical characterization and intracellular localization of the Menkes disease protein
    Y Yamaguchi
    Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA
    Proc Natl Acad Sci U S A 93:14030-5. 1996
    ....
  7. pmc Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking
    M J Petris
    Department of Genetics, University of Melbourne, Parkville, Victoria, Australia
    EMBO J 15:6084-95. 1996
    The Menkes P-type ATPase (MNK), encoded by the Menkes gene (MNK; ATP7A), is a transmembrane copper-translocating pump which is defective in the human disorder of copper metabolism, Menkes disease...
  8. pmc Identification of point mutations in 41 unrelated patients affected with Menkes disease
    Z Tumer
    The John F Kennedy Institute, Copenhagen, Denmark
    Am J Hum Genet 60:63-71. 1997
    ..patients affected with the classical severe form of Menkes disease was investigated for point mutations in the ATP7A gene (previously designated as the "MNK" gene)...
  9. pmc A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family
    N Ronce
    Am J Hum Genet 61:233-8. 1997
  10. ncbi Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome
    M Qi
    Department of Pathology, University of Washington, Seattle, WA 98195 7470, USA
    Hum Mol Genet 7:465-9. 1998
    The ATP7A gene encodes a copper-transporting ATPase. Mutations in this gene result in two clinically distinct X-linked inherited disorders: Menkes disease and occipital horn syndrome (OHS)...
  11. ncbi A Golgi localization signal identified in the Menkes recombinant protein
    M J Francis
    Wellcome Trust Centre for Human Genetics, Windmill Road, Headington, Oxford OX3 7BN, UK
    Hum Mol Genet 7:1245-52. 1998
    ..The gene responsible for the phenotype has been identified as a copper transporting ATPase ( ATP7A ). Recently, the protein encoded by the ATP7A gene has been localized to the Golgi complex...
  12. ncbi A C-terminal di-leucine is required for localization of the Menkes protein in the trans-Golgi network
    M J Petris
    The Murdoch Institute, Royal Children s Hospital and Department of Genetics, University of Melbourne, Parkville 3052, Australia
    Hum Mol Genet 7:2063-71. 1998
    The human X-linked recessive disorder of copper metabolism, Menkes disease, is caused by a defect in the MNK ( ATP7A ) gene which encodes a transmembrane copper-transporting P-type ATPase (MNK)...
  13. ncbi Mutation spectrum of ATP7A, the gene defective in Menkes disease
    Z Tumer
    Department of Medical Genetics, Panum Institute, University of Copenhagen, Denmark
    Adv Exp Med Biol 448:83-95. 1999
    ..The mutations will be compared briefly with those described in the animal model mottled mouse, and in Wilson disease, the autosomal recessive disorder of copper metabolism...
  14. ncbi Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease
    A Ogawa
    Department of Pediatrics, Chiba University School of Medicine, Japan
    J Hum Genet 44:206-9. 1999
    ..is an X-linked recessive disorder of the copper membrane transport system caused by mutations to the Menkes (MNK) gene...
  15. ncbi Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease
    L Ambrosini
    The Murdoch Institute, Royal Children s Hospital, Flemington Road, Parkville 3052, Australia
    Hum Mol Genet 8:1547-55. 1999
    ..The Menkes gene product (MNK) is a P-type ATPase and is considered to be the main copper efflux protein in most cells...
  16. ncbi The Menkes protein (ATP7A; MNK) cycles via the plasma membrane both in basal and elevated extracellular copper using a C-terminal di-leucine endocytic signal
    M J Petris
    The Murdoch Institute, Royal Children s Hospital, Parkville 3052, Australia
    Hum Mol Genet 8:2107-15. 1999
    Menkes disease is an X-linked recessive copper deficiency disorder caused by mutations in the ATP7A ( MNK ) gene which encodes a copper transporting P-type ATPase (MNK)...
  17. pmc Interaction of the copper chaperone HAH1 with the Wilson disease protein is essential for copper homeostasis
    I Hamza
    Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St Louis, MO
    Proc Natl Acad Sci U S A 96:13363-8. 1999
    ..Taken together, these data provide a mechanism for the function of HAH1 as a copper chaperone in mammalian cells and demonstrate that this protein is essential for copper homeostasis...
  18. pmc Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome
    L B Møller
    The John F Kennedy Institute, 2600 Glostrup, Denmark
    Am J Hum Genet 66:1211-20. 2000
    More than 150 point mutations have now been identified in the ATP7A gene. Most of these mutations lead to the classic form of Menkes disease (MD), and a few lead to the milder occipital horn syndrome (OHS)...
  19. pmc Evidence for a Menkes-like protein with a nuclear targeting sequence
    M C Reddy
    Department of Biochemistry and Biophysics and the Faculty of Nutrition, Texas A and M University, 2128 TAMUS, College Station, TX 77843 2128, USA
    Biochem J 350:855-63. 2000
    ..of the present study codes for a 103-residue protein containing the first heavy-metal-binding domain (Hmb1) of ATP7A, the Cu-ATPase associated with Menkes disease...
  20. ncbi The Menkes copper transporter is required for the activation of tyrosinase
    M J Petris
    Centre for Cellular and Molecular Biology, School of Biological and Chemical Sciences, Deakin University, 221 Burwood Highway, Burwood 3125, Australia
    Hum Mol Genet 9:2845-51. 2000
    Menkes disease is an X-linked recessive copper deficiency disorder caused by mutations in the ATP7A (MNK) gene...
  21. ncbi ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome
    Y H Gu
    Department of Pediatrics, Teikyo University School of Medicine, Tokyo, Japan
    Am J Med Genet 99:217-22. 2001
    ..males with Menkes disease and 2 Japanese males with occipital horn syndrome were studied for mutations in the ATP7A gene...
  22. ncbi A conditional mutation affecting localization of the Menkes disease copper ATPase. Suppression by copper supplementation
    Byung Eun Kim
    Department of Nutritional Sciences, University of Missouri, Columbia 65211, USA
    J Biol Chem 277:44079-84. 2002
    ..disease, an X-linked copper deficiency disorder caused by mutations in the copper transporting P-type ATPase, MNK. MNK is located in the trans-Golgi network where it transports copper to secreted cuproenzymes...
  23. ncbi Novel membrane traffic steps regulate the exocytosis of the Menkes disease ATPase
    Christian Cobbold
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford OX3 7BN, UK
    Hum Mol Genet 11:2855-66. 2002
    The Menkes disease protein (ATP7A or MNK) is a P-type transmembrane ATPase that regulates translocation of cytosolic copper ions across intracellular membranes of compartments along the secretory pathway...
  24. ncbi X-linked recessive Menkes disease: carrier detection in the case of a partial gene deletion
    L Poulsen
    The John F Kennedy Institute, Glostrup, Denmark
    Clin Genet 62:440-8. 2002
    X-linked recessive Menkes disease is a lethal disorder of copper metabolism, caused by defects in the ATP7A gene. About 15% of the mutations causing Menkes disease are partial gene deletions...
  25. ncbi X-linked recessive Menkes disease: identification of partial gene deletions in affected males
    L Poulsen
    The John F Kennedy Institute, Glostrup, Denmark
    Clin Genet 62:449-57. 2002
    Menkes disease is an X-linked recessive lethal disorder of copper metabolism, caused by defects in the ATP7A gene. Partial gene deletions comprise about 15% of the mutations causing Menkes disease...
  26. pmc A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase
    B E Kim
    J Med Genet 40:290-5. 2003
  27. ncbi The Menkes disease ATPase (ATP7A) is internalized via a Rac1-regulated, clathrin- and caveolae-independent pathway
    Christian Cobbold
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford 0X3 7BN, UK
    Hum Mol Genet 12:1523-33. 2003
    The Menkes disease gene encodes a P-type transmembrane ATPase (ATP7A) that translocates cytosolic copper ions across intracellular membranes of compartments along the secretory pathway...
  28. ncbi Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A
    Zeynep Tumer
    Wilhelm Johannsen Center for Functional Genome Research, Department of Medical Genetics, IMBG, The Panum Institute, University of Copenhagen, Denmark
    Hum Mutat 22:457-64. 2003
    ..MD results from mutations in the ATP7A gene, which encodes a membrane-bound copper transporting P-type ATPase located in the trans-Golgi network...
  29. ncbi Studies on endocytic mechanisms of the Menkes copper-translocating P-type ATPase (ATP7A; MNK). Endocytosis of the Menkes protein
    Cinnamon Lane
    Department of Genetics, University of Melbourne, Victoria 3010, Australia
    Biometals 17:87-98. 2004
    The human X-linked recessive copper deficiency disorder, Menkes disease, is caused by mutations in the ATP7A (MNK) gene, which encodes a transmembrane copper-transporting P-type ATPase (MNK)...
  30. ncbi Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A
    Lisbeth Birk Møller
    Kennedy Institute Statens Øjenklinik, Glostrup, Denmark
    Hum Mutat 26:84-93. 2005
    b>ATP7A encodes a copper-translocating ATPase that belongs to the large family of P-type ATPases. Eight conserved regions define the core of the P-type ATPase superfamily...
  31. pmc Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites
    Marianne Paulsen
    Kennedy Institute National Eye Clinic, Glostrup, Denmark
    Am J Hum Genet 79:214-29. 2006
    Menkes disease (MD) is an X-linked recessive disorder of copper metabolism. It is caused by mutations in the ATP7A gene encoding a copper-translocating P-type ATPase, which contains six N-terminal copper-binding sites (CBS1-CBS6)...
  32. ncbi Functional copper transport explains neurologic sparing in occipital horn syndrome
    Jingrong Tang
    Unit on Pediatric Genetics, Laboratory of Clinical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1832, USA
    Genet Med 8:711-8. 2006
    ..Both phenotypes are caused by mutations in ATP7A, which encodes a copper-transporting adenosine triphosphatase, although defects causing occipital horn syndrome ..
  33. ncbi Dynamics of endogenous ATP7A (Menkes protein) in intestinal epithelial cells: copper-dependent redistribution between two intracellular sites
    L Nyasae
    Department of Cell Biology, Johns Hopkins University School of Medicine, 725 N Wolfe St, Baltimore, MD 21210, USA
    Am J Physiol Gastrointest Liver Physiol 292:G1181-94. 2007
    We report for the first time on the copper-dependent behavior of endogenous ATP7A in two types of polarized intestinal epithelia, rat enterocytes in vivo and filter-grown Caco-2 cells, an accepted in vitro model of human small intestine...
  34. pmc Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome
    Anthony Donsante
    Unit on Pediatric Genetics, Laboratory of Clinical Genomics, National Institute of Child Health and Human Development, Bethesda, MD20892 1832, USA
    J Med Genet 44:492-7. 2007
    ..We report two unrelated families featuring affected members with unusually disparate clinical and biochemical phenotypes and explore the underlying molecular mechanisms...
  35. ncbi Trafficking of the copper-ATPases, ATP7A and ATP7B: role in copper homeostasis
    Sharon La Fontaine
    Centre for Cellular and Molecular Biology, School of Life and Environmental Sciences, 221 Burwood Highway, Burwood, VIC 3125, Australia
    Arch Biochem Biophys 463:149-67. 2007
    ..The copper-transporting P-type ATPases, ATP7A and ATP7B are key molecules required for the regulation and maintenance of mammalian copper homeostasis...
  36. pmc Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes
    P De Bie
    Laboratory of Metabolic and Endocrine Diseases, Room KC 02 069 1, Lundlaan 6, 3584 EA Utrecht, The Netherlands
    J Med Genet 44:673-88. 2007
    ..Central regulators of cellular copper metabolism are the copper-transporting P-type ATPases ATP7A and ATP7B...
  37. pmc Cell-specific ATP7A transport sustains copper-dependent tyrosinase activity in melanosomes
    Subba Rao Gangi Setty
    Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Nature 454:1142-6. 2008
    ..onto secreted and endomembrane cuproproteins by translocation from the cytosol into membrane-bound organelles by ATP7A or ATP7B transporters, the genes for which are mutated in the copper imbalance syndromes Menkes disease and Wilson ..
  38. pmc Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy
    Marina L Kennerson
    Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Concord, Australia
    Am J Hum Genet 86:343-52. 2010
    ..1-q21 in two large unrelated families. The region of genetic linkage included ATP7A, which encodes a copper-transporting P-type ATPase mutated in patients with Menkes disease, a severe infantile-..
  39. pmc Role of glutaredoxin1 and glutathione in regulating the activity of the copper-transporting P-type ATPases, ATP7A and ATP7B
    William C J Singleton
    Strategic Research Centre for Molecular and Medical Research and Centre for Cellular and Molecular Biology, School of Life and Environmental Sciences, Deakin University, Burwood, 3125 Victoria
    J Biol Chem 285:27111-21. 2010
    The copper-transporting P-type ATPases (Cu-ATPases), ATP7A and ATP7B, are essential for the regulation of intracellular copper homeostasis...
  40. pmc Unexpected role of the copper transporter ATP7A in PDGF-induced vascular smooth muscle cell migration
    Takashi Ashino
    Department of Medicine, Section of Cardiology, Center for Cardiovascular Research, University of Illinois at Chicago, Chicago, IL 60612, USA
    Circ Res 107:787-99. 2010
    ..copper is regulated not only by the copper importer CTR1 (copper transporter 1) but also by the copper exporter ATP7A (Menkes ATPase), whose function is achieved through copper-dependent translocation from trans-Golgi network (TGN)...
  41. pmc ATP7A-related copper transport diseases-emerging concepts and future trends
    Stephen G Kaler
    National Institute of Child Health and Human Development, NIH, Building 10 Room 10N313, 10 Center Drive MSC 1853, Bethesda, MD 20892 1853, USA
    Nat Rev Neurol 7:15-29. 2011
    This Review summarizes recent advances in understanding copper-transporting ATPase 1 (ATP7A), and examines the neurological phenotypes associated with dysfunction of this protein...
  42. pmc Splice site mutations in the ATP7A gene
    Tina Skjørringe
    Department of Applied Functional Human Genetics, The Kennedy Center, Glostrup, Denmark
    PLoS ONE 6:e18599. 2011
    Menkes disease (MD) is caused by mutations in the ATP7A gene. We describe 33 novel splice site mutations detected in patients with MD or the milder phenotypic form, Occipital Horn Syndrome...
  43. doi Crystal structure of a copper-transporting PIB-type ATPase
    Pontus Gourdon
    Centre for Membrane Pumps in Cells and Disease PUMPKIN, Danish National Research Foundation, Aarhus University, Department of Molecular Biology, Gustav Wieds Vej 10C, DK 8000 Aarhus C, Denmark
    Nature 475:59-64. 2011
    ..The structure also provides a framework to analyse missense mutations in the human ATP7A and ATP7B proteins associated with Menkes' and Wilson's diseases.
  44. pmc Clusterin and COMMD1 independently regulate degradation of the mammalian copper ATPases ATP7A and ATP7B
    Stephanie Materia
    Strategic Research Centre for Molecular and Medical Research, School of Life and Environmental Sciences, Deakin University, Burwood, Victoria 3125, Australia
    J Biol Chem 287:2485-99. 2012
    b>ATP7A and ATP7B are copper-transporting P(1B)-type ATPases (Cu-ATPases) that are critical for regulating intracellular copper homeostasis...
  45. pmc Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy
    Ling Yi
    Unit on Human Copper Metabolism, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD 20892 1853, USA
    Hum Mol Genet 21:1794-807. 2012
    b>ATP7A is a P-type ATPase that regulates cellular copper homeostasis by activity at the trans-Golgi network (TGN) and plasma membrane (PM), with the location normally governed by intracellular copper concentration...
  46. doi An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome
    Zeynep Tumer
    Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark
    Hum Mutat 34:417-29. 2013
    ..MD occurs because of mutations in the ATP7A gene and the vast majority of ATP7A mutations are intragenic mutations or partial gene deletions...
  47. pmc A global analysis of SNX27-retromer assembly and cargo specificity reveals a function in glucose and metal ion transport
    Florian Steinberg
    The Henry Wellcome Integrated Signalling Laboratories, School of Biochemistry, University of Bristol, Bristol BS8 1TD, UK
    Nat Cell Biol 15:461-71. 2013
    ..many of which interact with SNX27, including the glucose transporter GLUT1, the Menkes disease copper transporter ATP7A, various zinc and amino acid transporters, and numerous signalling receptors, require SNX27-retromer to prevent ..
  48. pmc Trafficking of the Menkes copper transporter ATP7A is regulated by clathrin-, AP-2-, AP-1-, and Rab22-dependent steps
    Zoe G Holloway
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom
    Mol Biol Cell 24:1735-48, S1-8. 2013
    The transporter ATP7A mediates systemic copper absorption and provides cuproenzymes in the trans-Golgi network (TGN) with copper. To regulate metal homeostasis, ATP7A constitutively cycles between the TGN and plasma membrane (PM)...
  49. pmc ATP7A trafficking and mechanisms underlying the distal motor neuropathy induced by mutations in ATP7A
    Ling Yi
    Section on Translational Neuroscience, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland
    Ann N Y Acad Sci 1314:49-54. 2014
    Diverse mutations in the gene encoding the copper transporter ATP7A lead to X-linked recessive Menkes disease or occipital horn syndrome...
  50. ncbi Copper transport systems are involved in multidrug resistance and drug transport
    Tatsuhiko Furukawa
    Department of Molecular Oncology, Graduate School of Medical and Dental Sciences, Kagoshima University, 8 35 1 Sakuragaoka, Kagoshima 890 8544, Japan
    Curr Med Chem 15:3268-78. 2008
    ..Defects in the copper transporters ATP7A and ATP7B are responsible for Menkes disease and Wilson's disease respectively...
  51. pmc Genomic organization of ATOX1, a human copper chaperone
    Po Ching Liu
    Unit on Pediatric Genetics, Laboratory of Clinical Genomics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA
    BMC Genet 4:4. 2003
    ..and occipital horn syndrome (OHS) are allelic disorders of copper transport caused by defects in a X-linked gene (ATP7A) that encodes a P-type ATPase that transports copper across cellular membranes, including the trans-Golgi network...
  52. pmc Combined zebrafish-yeast chemical-genetic screens reveal gene-copper-nutrition interactions that modulate melanocyte pigmentation
    Hironori Ishizaki
    Institute of Genetics and Molecular Medicine, MRC Human Genetics Unit and The University of Edinburgh, Western General Hospital, Edinburgh, UK
    Dis Model Mech 3:639-51. 2010
    ..is a feature of copper deficiency in humans, as caused by mutation of the copper (Cu(2+)) transporter ATP7A in Menkes disease, or an inability to absorb copper after gastric surgery...
  53. doi Phosphorylation regulates copper-responsive trafficking of the Menkes copper transporting P-type ATPase
    Nicholas A Veldhuis
    Genetics Department, The University of Melbourne, Melbourne, Victoria, Australia
    Int J Biochem Cell Biol 41:2403-12. 2009
    The Menkes copper-translocating P-type ATPase (ATP7A) is a critical copper transport protein functioning in systemic copper absorption and supply of copper to cuproenzymes in the secretory pathway...
  54. pmc Role of copper transporters in copper homeostasis
    Joseph R Prohaska
    University of Minnesota Medical School, Duluth, MN 55812, USA
    Am J Clin Nutr 88:826S-9S. 2008
    ..A third chaperone, Atox1, delivers copper to the secretory pathway by docking with 2 P-type ATPases. One, ATP7A, is the protein nonfunctional in Menkes disease...
  55. ncbi The copper-transporting ATPases, menkes and wilson disease proteins, have distinct roles in adult and developing cerebellum
    Natalie Barnes
    Department of Biochemistry and Molecular Biology, Oregon Health and Science University, Portland, Oregon 97239 3098, USA
    J Biol Chem 280:9640-5. 2005
    ..The copper-transporting ATPases ATP7A and ATP7B play a central role in distribution of copper in the central nervous system; genetic mutations in ATP7A ..
  56. ncbi Analysis of Mnk, the murine homologue of the locus for Menkes disease, in normal and mottled (Mo) mice
    A M George
    Genetics Division, MRC Radiobiology Unit, Chilton, Didcot, Oxon, United Kingdom
    Genomics 22:27-35. 1994
    Menkes disease (MNK) lies immediately proximal to pphosphoglycerate kinase (PGK1) in Xq13 in human...
  57. pmc Altered ATP7A expression and other compensatory responses in a murine model of Menkes disease
    Mark J Niciu
    University of Connecticut Health Center, Department of Neuroscience, Academic Research Building E 4047 1, 263 Farmington Avenue, Farmington, CT 06030 3401, USA
    Neurobiol Dis 27:278-91. 2007
    Mutations in the copper-transporter ATP7A lead to severe neurodegeneration in the mottled brindled hemizygous male (MoBr/y) mouse and human patients with Menkes disease...
  58. ncbi A phosphoglycerate mutase brain isoform (PGAM 1) pseudogene is localized within the human Menkes disease gene (ATP7 A)
    H A Dierick
    Department of Pediatrics, University of Michigan, Ann Arbor 48109 0618, USA
    Gene 198:37-41. 1997
    ..brain isoform (PGAM 1, PGAM B) cDNA that is localized between exons 1 and 2 of the Menkes disease gene (ATP7 A, MNK) at Xq13.3. The cDNA shows 98% identity to the previously identified PGAM 1 cDNA (Sakoda et al., J. Biol. Chem...
  59. ncbi Impaired somatostatin accumulation within the median eminence in mice with mosaic mutation
    Urszula Wojewodzka
    Laboratory of the Cell Ultrastructure, Medical Research Center, Polish Academy of Sciences, Warsaw, Poland
    Neuro Endocrinol Lett 25:78-82. 2004
    The mosaic mutation (Atp7a(mo-ms)) linked to X-chromosome is caused by changes in the Atp7a gene encoding CPx-type protein responsible for the ATP-dependent copper transport across cell membranes...
  60. pmc In vivo correction of a Menkes disease model using antisense oligonucleotides
    Erik C Madsen
    Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA
    Proc Natl Acad Sci U S A 105:3909-14. 2008
    ..Menkes disease is a fatal neurodegenerative disorder due to loss-of-function mutations in the ATP7A gene encoding a copper-transporting P-type Atpase...
  61. doi Effects of copper supplementation on the structure and content of elements in kidneys of mosaic mutant mice
    Małgorzata Lenartowicz
    Department of Genetics and Evolution, Institute of Zoology, Jagiellonian University, Krakow, Poland
    Biol Trace Elem Res 136:204-20. 2010
    Menkes disease is an effect of ATP7A gene mutation in humans, coding the Cu-ATP-ase which is essential in intestinal copper absorption and its subsequent transfer to circulation...
  62. pmc Role of the Menkes copper-transporting ATPase in NMDA receptor-mediated neuronal toxicity
    Michelle L Schlief
    Mallinckrodt Department of Pediatrics, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA
    Proc Natl Acad Sci U S A 103:14919-24. 2006
    ..to thrive, is due to inherited loss-of-function mutations in the gene encoding a copper-transporting ATPase (Atp7a) on the X chromosome...
  63. ncbi [The role of the yolk sac in copper metabolism during rat embryogenesis]
    L V Puchkova
    Institute of Experimental Medicine, Russian Academy of Medical Sciences, ul Akad Pavlova 12, St Petersburg, 197376 Russia
    Ontogenez 32:204-11. 2001
    Using the immunoblotting method, the synthesis of two copper-transporting P1-type ATPases, ATP7A (a candidate for the product of the Menkes disease gene) and ATP7B (presumed product of the Wilson disease gene), in the yolk sac cells of ..
  64. ncbi Expression in mouse kidney of membrane copper transporters Atp7a and Atp7b
    Steven D P Moore
    University of Alberta, Department of Medical Genetics, Edmonton, Alta, Canada
    Nephron 92:629-34. 2002
    ..Several copper proteins are required for copper homeostasis. ATP7A and ATP7B are genes encoding membrane copper transporters...
  65. ncbi Atp7a determines a hierarchy of copper metabolism essential for notochord development
    Bryce A Mendelsohn
    Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Cell Metab 4:155-62. 2006
    ..copper deficiency, identifying calamity, a mutant defective in the zebrafish ortholog of the Menkes disease gene (atp7a)...
  66. ncbi The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
    P C Bull
    Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
    Nat Genet 5:327-37. 1993
    ..identified a sequence, similar to that coding for the proposed copper binding regions of the putative ATPase gene (MNK) defective in Menkes disease...
  67. ncbi Intracellular localization and loss of copper responsiveness of Mnk, the murine homologue of the Menkes protein, in cells from blotchy (Mo blo) and brindled (Mo br) mouse mutants
    S La Fontaine
    The Murdoch Institute, Royal Children s Hospital, Parkville, Victoria, Australia
    Hum Mol Genet 8:1069-75. 1999
    Menkes disease is an X-linked copper deficiency disorder that results from mutations in the ATP7A ( MNK ) gene...
  68. ncbi Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes' disease
    V Reed
    MRC Mammalian Genetics Unit, Harwell, Oxon, UK
    Hum Mol Genet 6:417-23. 1997
    ..horn syndrome (OHS) are allelic X-linked disorders caused by mutations in the copper ion transporting ATPase, ATP7A. Genetic, phenotypic and biochemical data suggest that mottled mutants in the mouse, which range in severity and ..
  69. ncbi Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease
    A Grimes
    Murdoch Institute, Royal Children s Hospital, Parkville, Victoria, Australia
    Hum Mol Genet 6:1037-42. 1997
    ..Menkes disease has been shown to be due to mutations of the gene ATP7A which encodes P-type ATPase (referred to here as MNK)...
  70. ncbi Molecular mechanisms of copper metabolism and the role of the Menkes disease protein
    M D Harrison
    National Research Centre for Environmental Toxicology, The University of Queensland, Coopers Plains, Australia
    J Biochem Mol Toxicol 13:93-106. 1999
    ..A candidate gene for the disease has been isolated and designated MNK. The MNK gene codes for a P-type cation transporting ATPase, based on homology to known P-type ATPases and in vitro ..
  71. ncbi Correction of a mouse model of Menkes disease by the human Menkes gene
    Roxana M Llanos
    Centre for Cellular and Molecular Biology, School of Life and Environmetal Sciences, Deakin University, Burwood 3125, Australia
    Biochim Biophys Acta 1762:485-93. 2006
    ..Males carrying the mutant allele of the Menkes gene orthologue Atp7a die in the second week of life...
  72. ncbi A novel ATP7A gross deletion mutation in a Korean patient with Menkes disease
    Hyung Doo Park
    Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
    Ann Clin Lab Sci 39:188-91. 2009
    ..disease (MD, MIM 309400) is a fatal X-linked recessive disorder that is caused by mutations in the gene encoding ATP7A, a copper-transporting, P-type ATPase...
  73. pmc Participation of ATP7A in macrophage mediated oxidation of LDL
    Zhenyu Qin
    Division of Cardiovascular Diseases, Genome Research Institute, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA
    J Lipid Res 51:1471-7. 2010
    b>ATP7A primarily functions to egress copper from cells, thereby supplying this cofactor to secreted copper-accepting enzymes...
  74. pmc Molecular correlates of epilepsy in early diagnosed and treated Menkes disease
    Stephen G Kaler
    Unit on Human Copper Metabolism, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1853, USA
    J Inherit Metab Dis 33:583-9. 2010
    ..major feature of Menkes disease, an X-linked recessive infantile neurodegenerative disorder caused by mutations in ATP7A, which produces a copper-transporting ATPase...
  75. ncbi The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene
    C Cecchi
    Unité de Génétique Moléculaire Murine, Institut Pasteur, Paris, France
    Hum Mol Genet 6:425-33. 1997
    Mutations in the Atp7a gene, the mouse homologue of the MNK (ATP7A) gene, have been suggested to be responsible for the mottled phenotype...
  76. ncbi Copper efflux from murine microvascular cells requires expression of the menkes disease Cu-ATPase
    Y Qian
    Departments of Biochemistry and Biophysics, Texas A and M University, College Station, TX 77843, USA
    J Nutr 128:1276-82. 1998
    ..Cu by PC12 pheochromocytoma cells and C6 glioma cells correlated with the expression of a Cu-transporting ATPase (Atp7a) that has been linked to Menkes disease...
  77. ncbi Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese population
    A Ogawa
    Department of Pediatrics, Chiba University School of Medicine, Japan
    J Hum Genet 45:315-7. 2000
    Menkes disease is an X-linked recessive disorder of the copper membrane transport system caused by mutations in the ATP7A gene...
  78. ncbi [Menkes' disease: heterozygosity testing by quantitative real-time PCR and the dilemma of therapeutic support]
    O Rittinger
    Universitätsklinik für Kinder und Jugendheilkunde, Paracelsus Medizinische Privatuniversität Salzburg, Osterreich
    Klin Padiatr 217:286-90. 2005
    ..This is particularly true for patients with large deletions or severe truncations of the responsible ATP7A gene...
  79. ncbi Phenotypic and genetic characterization of the Atp7a(Mo-Tohm) mottled mouse: a new murine model of Menkes disease
    Yasumasa Mototani
    Institute for Animal Experimentation, Tohoku University Graduate School of Medicine, 2 1 Seiryo machi, Aoba ku, Sendai 980 7585, Japan
    Genomics 87:191-9. 2006
    Mottled Tohoku (Atp7a(Mo-Tohm) or Mo(Tohm)) is an X-linked mutation with mottled pigmentation in heterozygous (Mo(Tohm)/+) females and is embryonic lethal at E11 in hemizygous (Mo(Tohm)/Y) males...
  80. pmc ATP7A (Menkes protein) functions in axonal targeting and synaptogenesis
    Rajaa El Meskini
    Department of Neuroscience, University of Connecticut Health Center, Farmington, CT 06030, USA
    Mol Cell Neurosci 34:409-21. 2007
    Menkes disease (MD) is a neurodegenerative disorder caused by mutations in the copper transporter, ATP7A, a P-type ATPase...
  81. pmc Safety of intracerebroventricular copper histidine in adult rats
    Kristen E Lem
    Unit on Pediatric Genetics, Laboratory of Clinical Genomics, National Institute of Child Health and Human Development, Bethesda, MD, USA
    Mol Genet Metab 91:30-6. 2007
    ..Classical Menkes disease is an X-linked recessive neurodegenerative disorder caused by mutations in a P-type ATPase (ATP7A) that normally delivers copper to the developing central nervous system...
  82. ncbi Alternative splicing in the Atp7a gene in the Cu deficient mosaic mutation in mice
    Małgorzata Lenartowicz
    Department of Genetics and Evolution, Institute of Zoology, Jagiellonian University, R Ingardena 6, 30 060 Krakow, Poland
    Folia Biol (Krakow) 52:219-23. 2004
    ..It has been demonstrated that the disruption of copper metabolism is caused by a mutation in the Atp7a gene and leads to a lethal phenotype...
  83. pmc Cell-specific trafficking suggests a new role for renal ATP7B in the intracellular copper storage
    Natalie Barnes
    Department of Biochemistry and Molecular Biology, Oregon Health and Science University, Portland, Oregon 97239 3098, USA
    Traffic 10:767-79. 2009
    Human Cu-ATPases ATP7A and ATP7B maintain copper homeostasis through regulated trafficking between intracellular compartments. Inactivation of these transporters causes Menkes disease and Wilson disease, respectively...
  84. doi A Drosophila model of Menkes disease reveals a role for DmATP7 in copper absorption and neurodevelopment
    Sepehr Bahadorani
    Department of Biology, York University, Toronto, Ontario M3J 1P3, Canada
    Dis Model Mech 3:84-91. 2010
    Human Menkes disease is a lethal neurodegenerative disorder of copper metabolism that is caused by mutations in the ATP7A copper-transporting gene...
  85. ncbi Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions
    K Petrukhin
    Department of Genetics and Development, College of Physicians and Surgeons, Columbia University, New York, NY
    Hum Mol Genet 3:1647-56. 1994
    ..been identified based upon apparent disease-specific mutations and a striking amino acid homology to the gene (ATP7A) responsible for another human copper transport disorder, X-linked Menkes disease (MNK)...
  86. ncbi Developmental expression of the mouse mottled and toxic milk genes suggests distinct functions for the Menkes and Wilson disease copper transporters
    Y M Kuo
    Department of Medicine, University of California, San Francisco 94143, USA
    Hum Mol Genet 6:1043-9. 1997
    ..The mouse homologues for the Menkes (MNK) and Wilson (WND) disease genes are the mottled (Atp7a) and toxic milk (Atp7b) genes, respectively...
  87. ncbi Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease
    T Okada
    The 2nd Department of Internal Medicine, Kanazawa University, School of Medicine, Ishikawa, Japan
    Hum Mutat 15:454-62. 2000
    ..produces a protein which is predicted to be a copper-binding P-type ATPase, homologous to the Menkes disease gene (ATP7A). Various mutations of ATP7B have been identified...
  88. ncbi Liver ischemia and ischemia-reperfusion induces and trafficks the multi-specific metal transporter Atp7b to bile duct canaliculi: possible preferential transport of iron into bile
    John A Goss
    Michael E DeBakey Department of Surgery, Liver Transplant Center Laboratory, Baylor College of Medicine, Houston, TX 77030, USA
    Biol Trace Elem Res 122:26-41. 2008
    Both Atp7b (Wilson disease gene) and Atp7a (Menkes disease gene) have been reported to be trafficked by copper. Atp7b is trafficked to the bile duct canaliculi and Atp7a to the plasma membrane...
  89. doi Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with Menkes disease
    Pietro Sirleto
    Cytogenetics and Molecular Genetics, Bambino Gesu Children s Hospital, Roma 00165, Italy
    Pediatr Res 65:347-51. 2009
    Menkes disease (MD) is a rare and severe X-linked recessive disorder of copper metabolism. The MD gene, ATP7A (ATPase Cu++ transporting alpha polypeptide), encodes an ATP-dependent copper-binding membrane protein...
  90. doi Molecular diagnosis of Menkes disease: genotype-phenotype correlation
    Lisbeth Birk Møller
    Kennedy Center, Gl Landevej 7, 2600 Glostrup, Denmark
    Biochimie 91:1273-7. 2009
    Menkes syndrome is an X-linked, fatal neurodegenerative disorder of copper metabolism, caused by mutations in the ATP7A gene, encoding a copper-transporting P1B-type ATPase...
  91. pmc Menkes disease
    Zeynep Tumer
    Kennedy Centre, Glostrup, Denmark
    Eur J Hum Genet 18:511-8. 2010
    ..MD occurs due to mutations in the ATP7A gene and the vast majority of ATP7A mutations are intragenic mutations or partial gene deletions...
  92. doi Conservation of copper-transporting P(IB)-type ATPase function
    Adam Southon
    Department of Genetics, The University of Melbourne, Melbourne, VIC 3010, Australia
    Biometals 23:681-94. 2010
    ..Copper-induced trafficking of mammalian ATP7A and ATP7B from the trans-Golgi Network towards the plasma membrane is critical for their role in copper ..
  93. ncbi Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice
    J F Mercer
    Scobie and Claire, Mackinnon Trace Element Group, Murdoch Institute, Parkville, Victoria, Australia
    Nat Genet 6:374-8. 1994
    The murine homologue of the Menkes disease gene (MNK) was isolated from cDNA libraries, using human cDNA clones as probes, and by PCR. The predicted amino acid sequence shows a high level of identity (89...
  94. ncbi Genomic organization of the mottled gene, the mouse homologue of the human Menkes disease gene
    C Cecchi
    Unité de Génétique Moléculaire Murine, Institut Pasteur, Paris, France
    Genomics 37:96-104. 1996
    ..gene has been shown to span 120 kb of genomic DNA and to be similar in structure to both its human MNK homologue (ATP7A) and the Wilson disease gene (WD; ATP7B)...
  95. ncbi Occurrence of two missense mutations in Cu-ATPase of the macular mouse, a Menkes disease model
    Y Ohta
    Department of Biochemistry, Wakayama Medical College, Japan
    Biochem Mol Biol Int 43:913-8. 1997
    We have investigated the genetic defect of the Cu-ATPase gene (Atp7a) in the macular mouse, a genetic model of classical Menkes disease...
  96. ncbi Menkes kinky hair disease (Menkes syndrome). A case report
    Petja Fister
    University Children s Hospital, University Medical Centre Ljubljana, Vrazov trg 1, 1525 Ljubljana
    Acta Dermatovenerol Alp Pannonica Adriat 15:126-30. 2006
    Menkes disease (MD) is a rare genetic neurodegenerative disorder. It is caused by a mutation in the ATP7A gene, which codes for the copper-transporting ATPase in the cell organelles...
  97. ncbi Cu(I) binding and transfer by the N terminus of the Wilson disease protein
    Liliya A Yatsunyk
    Department of Biochemistry, Northwestern University, Evanston, Illinois 60208, USA
    J Biol Chem 282:8622-31. 2007
    ..and Menkes diseases are genetic disorders of copper metabolism caused by mutations in the Wilson (WND) and Menkes (MNK) copper-transporting P1B-type ATPases. The N termini of these ATPases consist of six metal binding domains (MBDs)...
  98. pmc Prenatal treatment of mosaic mice (Atp7a mo-ms) mouse model for Menkes disease, with copper combined by dimethyldithiocarbamate (DMDTC)
    Małgorzata Lenartowicz
    Department of Genetics and Evolution, Institute of Zoology, Jagiellonian University, Krakow, Poland
    PLoS ONE 7:e40400. 2012
    Menkes disease is a fatal neurodegenerative disorder in infants caused by mutations in the gene ATP7A which encodes a copper (Cu) transporter...
  99. doi Visual diagnosis: 8-day-old hypotonic newborn with sparse hair
    Jorge Sales Marques
    Serviço Pediatria, Centro Hospitalar Vila Nova de Gaia, Portugal
    Pediatr Rev 35:e53-6. 2014
    ..Menkes disease is an X-linked recessive disease caused by a defect in the ATP7A gene, identified in 95% to 98% of the cases...
  100. pmc Bone marrow from blotchy mice is dispensable to regulate blood copper and aortic pathologies but required for inflammatory mediator production in LDLR-deficient mice during chronic angiotensin II infusion
    Devon Harris
    Division of Vascular Surgery, Department of Surgery, University of Texas Health Science Center at San Antonio, San Antonio, TX
    Ann Vasc Surg 29:328-40. 2015
    The blotchy mouse caused by mutations of ATP7A develops low blood copper and aortic aneurysm and rupture...
  101. ncbi A murine model of Menkes disease reveals a physiological function of metallothionein
    E J Kelly
    Department of Biochemistry, University of Washington, Seattle 98195 7370, USA
    Nat Genet 13:219-22. 1996
    ..are X-linked diseases that result from copper deficiency due to mutations in a copper-effluxing ATPase, designated ATP7A. Male mice with the Mottled-Brindled allele (Mo-brJ) accumulate copper in the intestine, fail to export copper to ..

Research Grants42

  1. Mechanisms of Homeostatic Control of Copper in Tissues
    LAWRENCE WILSON GRAY; Fiscal Year: 2011
    ..and compare it to amounts of SCC over the same time period Specific Aim III: To determine the molecular basis of ATP7A protein upregulation in Atp7b-/- kidney...
  2. Michael J Petris; Fiscal Year: 2016
    ..The most severe of these is Menkes disease, a lethal pediatric disorder that is caused by mutations in the ATP7A copper transporter...
  3. Svetlana Lutsenko; Fiscal Year: 2016
    ..The genes affected in Menkes disease and Wilson's disease code for the copper-transporting ATPases ATP7A and ATP7B, respectively...
  4. Copper Transport Mechanism of Menkes disease protein and Wilson disease protein
    AMANDA NELL BARRY; Fiscal Year: 2010
    ..The copper transporting ATPases, ATP7A (Menkes disease protein) and ATP7B (Wilson disease protein), have been identified as key regulators of copper ..
  5. Iron and copper transporter trafficking in healthy and diseased melanocytes
    Michael Marks; Fiscal Year: 2007
    ..by specific transporters that import extracellular ion to the cytoplasm, and for copper by ATP-dependent pumps (ATP7A and ATP7B) that export copper from the cytosol to the secretory/endocytic pathway or outside the cell...
  6. Menkes protein:copper transport in the pituitary
    TAMI STEVESON; Fiscal Year: 2002
    The Menkes protein (MNK or ATP7A) is a P-type copper transporter ATPase involved in maintaining proper copper homeostasis in cells...
  7. MOLECULAR BIOLOGY OF THE MENKES SYNDROME GENE
    Thomas Glover; Fiscal Year: 2000
    ..During the current project period, the gene (ATP7A;MNK) for Menkes disease was cloned and studies were begun to investigate its structure, function and role in ..
  8. Excessive Copper Levels Disrupt Hepatic Nuclear Receptor Function
    Clavia Ruth Wooton-Kee; Fiscal Year: 2011
    ..This research specifically addresses the biological mechanisms relevant to human liver pathology and to Wilson's disease. ..
  9. Stephen B Howell; Fiscal Year: 2014
    ..that unequivocally produce cisplatin (DDP) resistance when over-expressed, the others being another Cu exporter, ATP7A, and metallothionein II...
  10. James F Collins; Fiscal Year: 2016
    ..In enterocytes, a copper transporting ATPase (Atp7a) and a copper-binding protein (metallothionein) were upregulated in the setting of increased intracellular copper ..
  11. Wei Zheng; Fiscal Year: 2014
    ..for Cu transport in brain barriers such as Cu transport protein-1 (Ctr1), divalent metal transporter-1 (DMT1) and ATP7A has been demonstrated, how Cu is transported by these transporters in brain barriers and by what mechanism ..
  12. Tohru Fukai; Fiscal Year: 2016
    ..of intracellular copper is regulated not only by the copper importer CTR1, but also by the copper exporter ATP7A whose function is mediated through copper-dependent translocation from trans-Golgi network (TGN) as well as copper ..
  13. Copper Transport in Lactation
    Maria Linder; Fiscal Year: 2009
    ..how, after cell entry, copper is routed to the milk and milk cemloplasmin;the role(s) of ATOX1, WND and/or MNK in this process and in regulating the copper content of the milk;and to further define the copper components of ..
  14. REGULATION OF CELL INTEGRITY BY DIETARY COPPER
    CATHY LEVENSON; Fiscal Year: 1999
    ..isolation and study of novel copper-regulated genes as well as the examination of two recently identified genes, MNK and WD, apparently involved in copper regulation...
  15. REGULATION OF EUKARYOTIC PROTEIN SYNTHESIS INITIATION
    ROBERT RHOADS; Fiscal Year: 2009
    ..Aim 2 is to examine the function of elF4E phosphorylation and its putative kinase, MNK-1, in C. elegans...
  16. Leonidas C Platanias; Fiscal Year: 2015
    ..Our data have established that Mnk kinases play key roles in IFN-dependent mRNA translation and growth suppression, providing a direct link between ..
  17. Theodore J Price; Fiscal Year: 2016
    ..6 (IL-6), stimulates translation-mediated changes in gene expression in DRG neurons via activation of the ERK-MNK pathway which phosphorylates and activates the eIF4E elongation initiation complex...
  18. Intestinal Iron Transport in Iron Deficiency/Anemia
    James Collins; Fiscal Year: 2005
    ..These changes include 4-12-fold upregulation of the basolateral membrane-specific copper ATPase (Atp7a), and 2-5-fold increases in a membrane bound form of ceruloplasmin, a multi-copper ferroxidase, which was seen in ..
  19. INHERITED DISORDERS OF COPPER TRANSPORT
    Jane Gitschier; Fiscal Year: 2002
    ..pathway, and transported across a membrane for incorporation into other proteins or for export by the Menkes (MNK) and Wilson (WND) disease gene products...
  20. Mammalian Lactoferrin Receptors: Structure and Function
    Bo Lonnerdal; Fiscal Year: 2007
    ..Overall, our understanding of the physiological significance of Lf and its receptor will be increased. ..
  21. Characterization of nuclear proteome in normal and diseased liver
    Svetlana Lutsenko; Fiscal Year: 2007
    ..The proteomic information and methodology generated during this study will be applicable for analysis of other hepatic disorders in humans. [unreadable] [unreadable] [unreadable]..
  22. Trace Element Metabolism: Basic and Applied Research
    MICHAEL PETRIS; Fiscal Year: 2006
    ..These individuals will be encouraged to present posters to be displayed in 2 poster sessions. We also will obtain funds to provide travel awards for up to 10 postdocs or senior graduate students. [unreadable] [unreadable] [unreadable]..
  23. Regulation of Mammalian Copper Homeotasis
    MICHAEL PETRIS; Fiscal Year: 2007
    ..Two copper ATPases, ATP7A and ATP7B, which are normally located in the trans-Golgi network, are stimulated to relocate to cytoplasmic ..
  24. NUTRITIONAL COPPER STATUS AND THE NERVOUS SYSTEM
    JOSEPH ROBERT PROHASKA; Fiscal Year: 2010
    ..AIM 4: We will test the hypothesis that limitation in Cu-dependent ferroxidases lead to lower brain iron and are responsible by comparing rats reared on an iron-fortified diet to restore brain iron. ..
  25. Regulation of Mammalian Copper Homeostasis
    MICHAEL PETRIS; Fiscal Year: 2008
    ..Menkes disease is characterized by an overall copper deficiency and is caused by mutations in the Menkes protein (ATP7A)...
  26. Ion Selectivity by Heavy Metal Transport ATPases
    JOSE ARGUELLO; Fiscal Year: 2002
    ..Results from these studies will help to establish the mechanism of heavy metal binding to carrier proteins and increase our understanding of heavy metal transport. ..
  27. Molecular and Cellular Studies of Ca2+ Transport ATPase
    Giuseppe Inesi; Fiscal Year: 2010
    ..e., adrenergic), long term changes in copy number, diversity and profile of Ca2+ signaling proteins are important factors in cardiac remodeling, hypertrophy, failure, and possible treatment. ..
  28. A device containing immobilized chelator to remove aluminum from TPN solutions
    Robert Yokel; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..
  29. Redox Regulation of Multidrug Resistance Gene Expression
    MACUS KUO; Fiscal Year: 2009
    ..We hope from these studies to learn the molecular bases of redox conditions that affect drug sensitivity through the regulation of their respective drug resistance gene expression. ..
  30. The Role of BCR/ABL in Regulating DNA Repair
    Martin Carroll; Fiscal Year: 2008
    ....
  31. FASEB SUMMER RESEARCH CONFERENCE: TRANSPORT ATPASES
    Giuseppe Inesi; Fiscal Year: 2003
    ..There is a good representation of established and junior scientists at the meeting, both male and female. ..
  32. Genomic Instability and Evolution of Drug Resistance
    MACUS KUO; Fiscal Year: 2008
    ..We anticipate from these studies to gain important insights into the function of FSA in the regulation of cell growth and differentiation in normal and malignant epithelial cells. ..
  33. Regulation of elF4E activity during oxidant stress
    JEFFREY SHENBERGER; Fiscal Year: 2007
    ..These studies will generate new information concerning the inter-dependence of translation and cell growth and form a novel basis for pharmacological intervention to minimize oxidative injury. ..
  34. Creation of an In Vitro Brain Barrier Transport System
    Wei Zheng; Fiscal Year: 2006
    ....
  35. Targeted Prodrug Therapy of Liver Cancers
    MACUS KUO; Fiscal Year: 2005
    ....
  36. CISPLATIN RESISTANCE DUE TO LOSS OF DNA MISMATCH REPAIR
    Stephen Howell; Fiscal Year: 2005
    ..Thus, it is very likely that the mechanisms underlying the DDP-induced mutagenicity will be of fundamental importance to understanding the genomic instability produced by many types of cellular injury. ..
  37. 2005 Oxidative Stress and Disease
    Valeria Culotta; Fiscal Year: 2005
    ..The detailed program and rationale presented within this project description supports the objective of this proposal being to obtain funds sufficient to cover this important international scientific meeting. ..
  38. The Center for Cancer Drug Development (C2D2)
    Stephen Howell; Fiscal Year: 2004
    ..abstract_text> ..
  39. REGULATION OF MDR GENE EXPRESSION IN LIVER CANCERS
    MACUS KUO; Fiscal Year: 2004
    ..We hope from this research, which includes in vitro cell culture and in vivo animal and tumor models, to gain important molecular insights into the genetic resolution of drug resistance and hepatocarcinogenesis. ..
  40. Aluminum bioavailability from foods
    Robert Yokel; Fiscal Year: 2004
    ..abstract_text> ..
  41. Workshop on Choroid Plexus in Brain Health and Disease.
    Wei Zheng; Fiscal Year: 2003
    ..abstract_text> ..
  42. Gordon Conferecnce on Oxidative Stress and Disease
    Valeria Culotta; Fiscal Year: 2003
    ..Funds are requested to support the travel and meeting expenses of the invited speakers and discussion leaders as well as 10 junior investigators that apply to the meeting. ..