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La ricerca find articoli where soggetti phrase all words 'MENKES DISEASE' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 309 riferimenti
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    1. Mercer, JFB
      The molecular basis of copper-transport diseases

      TRENDS IN MOLECULAR MEDICINE
    2. Linder, MC
      Copper and genomic stability in mammals

      MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
    3. Hahn, S; Cho, K; Ryu, K; Kim, J; Pai, K; Kim, M; Park, H; Yoo, O
      Identification of four novel mutations in classical menkes disease and successful prenatal DNA diagnosis

      MOLECULAR GENETICS AND METABOLISM
    4. George, DH; Casey, RE
      Menkes disease after copper histidine replacement therapy: Case report

      PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
    5. Nicolis, I; Deschamps, P; Curis, E; Corriol, O; Acar, V; Zerrouk, N; Chaumeil, JC; Guyon, F; Benazeth, S
      XAS applied to pharmaceuticals: drug administration and bioavailability

      JOURNAL OF SYNCHROTRON RADIATION
    6. Brewer, GJ
      Commentary: Landmark articles on copper in the field of human health

      JOURNAL OF TRACE ELEMENTS IN EXPERIMENTAL MEDICINE
    7. Palmer, CA; Percy, AK
      Neuropathology of occipital horn syndrome

      JOURNAL OF CHILD NEUROLOGY
    8. Strausak, D; Mercer, JFB; Dieter, HH; Stremmel, W; Multhaup, G
      Copper in disorders with neurological symptoms: Alzheimer's, Menkes, and Wilson diseases

      BRAIN RESEARCH BULLETIN
    9. van Mil, SWC; Klomp, LWJ; Bull, LN; Houwen, RHJ
      FIC1 disease: A spectrum of intrahepatic cholestatic disorders

      SEMINARS IN LIVER DISEASE
    10. Hansel, DE; May, V; Eipper, BA; Ronnett, GV
      Pituitary adenylyl cyclase-activating peptides and alpha-amidation in olfactory neurogenesis and neuronal survival in vitro

      JOURNAL OF NEUROSCIENCE
    11. Rolfs, A; Hediger, MA
      Intestinal metal ion absorption: an update

      CURRENT OPINION IN GASTROENTEROLOGY
    12. Riordan, SM; Williams, R
      The Wilson's disease gene and phenotypic diversity

      JOURNAL OF HEPATOLOGY
    13. Gu, YH; Kodama, H; Murata, Y; Mochizuki, D; Yanagawa, Y; Ushijima, H; Shiba, T; Lee, CC
      ATP7A gene mutations in 16 patients with Menkes disease and a patient withoccipital horn syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    14. Huffman, DL; O'Halloran, TV
      Function, structure, and mechanism of intracellular copper trafficking proteins

      ANNUAL REVIEW OF BIOCHEMISTRY
    15. Bekiesinska-Figatowska, M; Rokicki, D; Walecki, J; Gremida, M
      Menkes' disease with a Dandy-Walker variant: case report

      NEURORADIOLOGY
    16. Andrews, NC
      Mining copper transport genes

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    17. Kuo, YM; Zhou, B; Cosco, D; Gitschier, J
      The copper transporter CTR1 provides an essential function in mammalian embryonic development

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    18. Narayanan, VS; Fitch, CA; Levenson, CW
      Tumor suppressor protein p53 mRNA and subcellular localization are alteredby changes in cellular copper in human Hep G2 cells

      JOURNAL OF NUTRITION
    19. Jordan, IK; Natale, DA; Koonin, EV; Galperin, MY
      Independent evolution of heavy metal-associated domains in copper chaperones and copper-transporting ATPases

      JOURNAL OF MOLECULAR EVOLUTION
    20. Hou, ZJ; Narindrasorasak, S; Bhushan, B; Sarkar, B; Mitra, B
      Functional analysis of chimeric proteins of the Wilson Cu(I)-ATPase (ATP7B) and ZntA, a Pb(II)/Zn(II)/Cd(II)-ATPase from Escherichia coli

      JOURNAL OF BIOLOGICAL CHEMISTRY
    21. Arnesano, F; Banci, L; Bertini, I; Cantini, F; Ciofi-Baffoni, S; Huffman, DL; O'Halloran, TV
      Characterization of the binding interface between the copper chaperone Atx1 and the first cytosolic domain of Ccc2 ATPase

      JOURNAL OF BIOLOGICAL CHEMISTRY
    22. Vanderwerf, SM; Cooper, MJ; Stetsenko, IV; Lutsenko, S
      Copper specifically regulates intracellular phosphorylation of the Wilson's disease protein, a human copper-transporting ATPase

      JOURNAL OF BIOLOGICAL CHEMISTRY
    23. Tsivkovskii, R; MacArthurs, BC; Lutsenko, S
      The Lys(1010)-Lys(1325) fragment of the Wilson's disease protein binds nucleotides and interacts with the N-terminal domain of this protein in a copper-dependent manner

      JOURNAL OF BIOLOGICAL CHEMISTRY
    24. Banci, L; Bertini, I; Ciofi-Baffoni, S; Huffman, DL; O'Halloran, TV
      Solution structure of the yeast copper transporter domain Ccc2a in the apoand Cu(I)-loaded states

      JOURNAL OF BIOLOGICAL CHEMISTRY
    25. Bal, N; Mintz, E; Guillain, F; Catty, P
      A possible regulatory role for the metal-binding domain of CadA, the Listeria monocytogenes Cd2+-ATPase

      FEBS LETTERS
    26. Multhaup, G; Strausak, D; Bissig, KD; Solioz, M
      Interaction of the CopZ copper chaperone with the CopA copper ATPase of Enterococcus hirae assessed by surface plasmon resonance

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    27. Fan, B; Grass, G; Rensing, C; Rosen, BP
      Escherichia coli CopA N-terminal Cys(X)(2)Cys motifs are not required for copper resistance or transport

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    28. Wu, ZY; Wang, N; Lin, MT; Fang, L; Murong, SX; Yu, L
      Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in Chinese patients with Wilson disease

      ARCHIVES OF NEUROLOGY
    29. Xu, PY; Liang, XL; Jankovic, J; Le, W
      Identification of a high frequency of mutation at exon 8 of the ATP7B genein a Chinese population with Wilson disease by fluorescent PCR

      ARCHIVES OF NEUROLOGY
    30. Rosenzweig, AC
      Copper delivery by metallochaperone proteins

      ACCOUNTS OF CHEMICAL RESEARCH
    31. Lee, CC; Wu, JY; Tsai, FJ; Kodama, H; Abe, T; Yang, CF; Tsai, CH
      Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association

      JOURNAL OF HUMAN GENETICS
    32. Ogawa, A; Yamamoto, S; Kanazawa, M; Ogawa, E; Takayanagi, M; Hasegawa, S; Kohno, Y
      Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese population

      JOURNAL OF HUMAN GENETICS
    33. Himelblau, E; Amasino, RM
      Delivering copper within plant cells

      CURRENT OPINION IN PLANT BIOLOGY
    34. Sfaello, I; Castelnau, P; Blanc, N; Ogier, H; Evrard, P; Arzimanoglou, A
      Infantile spasms and Menkes disease

      EPILEPTIC DISORDERS
    35. Selvaag, E
      Pili torti and sensorineural hearing loss. A follow-up of Bjornstad's original patients and a review of the literature

      EUROPEAN JOURNAL OF DERMATOLOGY
    36. Loudianos, G; Lovicu, M; Solinas, P; Kanavakis, E; Tzetis, M; Manolaki, N; Panagiotakaki, E; Karpathios, T; Cao, A
      Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations

      GENETIC TESTING
    37. Wernimont, AK; Huffman, DL; Lamb, AL; O'Halloran, TV; Rosenzweig, AC
      Structural basis for copper transfer by the metallochaperone for the Menkes/Wilson disease proteins

      NATURE STRUCTURAL BIOLOGY
    38. Woeste, KE; Kieber, JJ
      A strong loss-of-function mutation in RAN1 results in constitutive activation of the ethylene response pathway as well as a rosette-lethal phenotype

      PLANT CELL
    39. Olsson, C; Waldenstrom, E; Westermark, K; Landegren, U; Syvanen, AC
      Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples

      EUROPEAN JOURNAL OF HUMAN GENETICS
    40. Luo, WQ; Chen, JH; Zhou, HJ; Huang, XW; Zhou, Y; Yuan, JG; Qiang, BQ
      Cloning and expression of a novel human HCUTA cDNA

      CHINESE SCIENCE BULLETIN
    41. Rinaldi, AC
      Meeting report - Copper research at the top

      BIOMETALS
    42. Forbes, JR; Cox, DW
      Copper-dependent trafficking of Wilson disease mutant ATP7B proteins

      HUMAN MOLECULAR GENETICS
    43. Moller, LB; Petersen, C; Lund, C; Horn, N
      Characterization of the hCTR1 gene: Genomic organization, functional expression, and identification of a highly homologous processed gene

      GENE
    44. Lee, J; Prohaska, JR; Dagenais, SL; Glover, TW; Thiele, DJ
      Isolation of a murine copper transporter gene, tissue specific expression and functional complementation of a yeast copper transport mutant

      GENE
    45. Berg, D; Weishaupt, A; Francis, MJ; Miura, N; Yang, XL; Goodyer, ID; Naumann, M; Koltzenburg, M; Reiners, K; Becker, G
      Changes of copper-transporting proteins and ceruloplasmin in the lentiformnuclei in primary adult-onset dystonia

      ANNALS OF NEUROLOGY
    46. Arredondo, M; Uauy, R; Gonzalez, M
      Regulation of copper uptake and transport in intestinal cell monolayers byacute and chronic copper exposure

      BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
    47. Loudianos, G; Gitlin, JD
      Wilson's disease

      SEMINARS IN LIVER DISEASE
    48. Michalczyk, AA; Rieger, J; Allen, KJ; Mercer, JFB; Ackland, ML
      Defective localization of the Wilson disease protein (ATP7B) in the mammary gland of the toxic milk mouse and the effects of copper supplementation

      BIOCHEMICAL JOURNAL
    49. Reddy, MCM; Majumdar, S; Harris, ED
      Evidence for a Menkes-like protein with a nuclear targeting sequence

      BIOCHEMICAL JOURNAL
    50. Harris, ED
      Cellular copper transport and metabolism

      ANNUAL REVIEW OF NUTRITION
    51. Sarkar, B
      Copper transport and its defect in Wilson disease: characterization of thecopper-binding domain of Wilson disease ATPase

      JOURNAL OF INORGANIC BIOCHEMISTRY
    52. Kurasaki, M; Okabe, M; Saito, S; Yamanoshita, O; Hosokawa, T; Saito, T
      Histochemical characterization of silver-induced metallothionein in rat kidney

      JOURNAL OF INORGANIC BIOCHEMISTRY
    53. Qian, Y; Harris, ED; Zheng, Y; Tiffany-Castiglioni, E
      Lead targets GRP78, a molecular chaperone, in C6 rat glioma cells

      TOXICOLOGY AND APPLIED PHARMACOLOGY
    54. Hirayama, T; Alonso, JM
      Ethylene captures a metal! Metal ions are involved in ethylene perception and signal transduction

      PLANT AND CELL PHYSIOLOGY
    55. Suzuki, KT; Ogura, Y
      Biological regulation of copper and selective removal of copper: Therapy for Wilson disease and its molecular mechanism

      YAKUGAKU ZASSHI-JOURNAL OF THE PHARMACEUTICAL SOCIETY OF JAPAN
    56. Weissman, Z; Berdicevsky, I; Cavari, BZ; Kornitzer, D
      The high copper tolerance of Candida albicans is mediated by a P-type ATPase

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    57. Azzouz, M; Poindron, P; Guettier, S; Leclerc, N; Andres, C; Warter, JM; Borg, J
      Prevention of mutant SOD1 motoneuron degeneration by copper chelators in vitro

      JOURNAL OF NEUROBIOLOGY
    58. Koch, HG; Winterstein, C; Saribas, AS; Alben, JO; Daldal, F
      Roles of the ccoGHIS gene products in the biogenesis of the cbb(3)-type cytochrome c oxidase

      JOURNAL OF MOLECULAR BIOLOGY
    59. Sharma, R; Rensing, C; Rosen, BP; Mitra, B
      The ATP hydrolytic activity of purified ZntA, a Pb(II)/Cd(II)/Zn(II)-translocating ATPase from Escherichia coli

      JOURNAL OF BIOLOGICAL CHEMISTRY
    60. O'Halloran, TV; Culotta, VC
      Metallochaperones, an intracellular shuttle service for metal ions

      JOURNAL OF BIOLOGICAL CHEMISTRY
    61. Huffman, DL; O'Halloran, TV
      Energetics of copper trafficking between the Atx1 metallochaperone and theintracellular copper transporter, Ccc2

      JOURNAL OF BIOLOGICAL CHEMISTRY
    62. Roelofsen, H; Wolters, H; Van Luyn, MJA; Miura, N; Kuipers, F; Vonk, RJ
      Copper-induced apical trafficking of ATP7B in polarized hepatoma cells provides a mechanism for biliary copper excretion

      GASTROENTEROLOGY
    63. Komatsu, M; Sumizawa, T; Mutoh, M; Chen, ZS; Terada, K; Furukawa, T; Yang, XL; Gao, H; Miura, N; Sugiyama, T; Akiyama, S
      Copper-transporting P-type adenosine triphosphatase (ATP7B) is associated with cisplatin resistance

      CANCER RESEARCH
    64. DiDonato, M; Hsu, HF; Narindrasorasak, S; Que, L; Sarkar, B
      Copper-induced conformational changes in the N-terminal domain of the Wilson disease copper-transporting ATPase

      BIOCHEMISTRY
    65. Harada, M; Sakisaka, S; Kawaguchi, T; Kimura, R; Taniguchi, E; Koga, H; Hanada, S; Baba, S; Furuta, K; Kumashiro, R; Sugiyama, T; Sata, M
      Copper does not alter the intracellular distribution of ATP7B, a copper-transporting ATPase

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    66. Hiromura, M; Chino, H; Sonoda, T; Sakurai, H
      Molecular cloning and characterization of a copper chaperone for copper/zinc superoxide dismutase from the rat

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    67. Oyler, RM
      Fragile hair and seizures in a child

      ARCHIVES OF DERMATOLOGY
    68. Tchaparian, EH; Uriu-Adams, JY; Keen, CL; Mitchell, AE; Rucker, RB
      Lysyl oxidase and P-ATPase-7A expression during embryonic development in the rat

      ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS
    69. Urban, Z; Boyd, CD
      Elastic-fiber pathologies: Primary defects in assembly - and secondary disorders in transport and delivery

      AMERICAN JOURNAL OF HUMAN GENETICS
    70. Ogawa, A; Yamamoto, S; Takayanagi, M; Kogo, T; Kanazawa, M; Kohno, Y
      An Ile/Val polymorphism at codon 1464 of the ATP7A gene

      JOURNAL OF HUMAN GENETICS
    71. Ogawa, A; Yamamoto, S; Takayanagi, M; Kogo, T; Kanazawa, M; Kohno, Y
      Identification of three novel mutations in the MNK gene in three unrelatedJapanese patients with classical Menkes disease

      JOURNAL OF HUMAN GENETICS
    72. Kodama, H; Murata, Y; Kobayashi, M
      Clinical manifestations and treatment of Menkes disease and its variants

      PEDIATRICS INTERNATIONAL
    73. Kodama, K; Murata, Y
      Molecular genetics and pathophysiology of Menkes disease

      PEDIATRICS INTERNATIONAL
    74. Suzuki, M; Gitlin, JD
      Intracellular localization of the Menkes and Wilson's disease proteins andtheir role in intracellular copper transport

      PEDIATRICS INTERNATIONAL
    75. Ho, IC; Lee, TC
      Sodium arsenite enhances copper accumulation in human lung adenocarcinoma cells

      TOXICOLOGICAL SCIENCES
    76. Loudianos, G; Dessi, V; Lovicu, M; Angius, A; Figus, A; Lilliu, F; De Virgiliis, S; Nurchi, AM; Deplano, A; Moi, P; Pirastu, M; Cao, AO
      Molecular characterization of Wilson disease in the Sardinian population -Evidence of a founder effect

      HUMAN MUTATION
    77. Waggoner, DJ; Bartnikas, TB; Gitlin, JD
      The role of copper in neurodegenerative disease

      NEUROBIOLOGY OF DISEASE
    78. Rosenzweig, AC; Huffman, DL; Hou, MY; Wernimont, AK; Pufahl, RA; O'Halloran, TV
      Crystal structure of the Atx1 metallochaperone protein at 1.02 angstrom resolution

      STRUCTURE WITH FOLDING & DESIGN
    79. Buiakova, OI; Xu, J; Lutsenko, S; Zeitlin, S; Das, K; Das, S; Ross, BM; Mekios, C; Scheinberg, IH; Gilliam, TC
      Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation

      HUMAN MOLECULAR GENETICS
    80. De Paepe, A; Loeys, B; Devriendt, K; Fryns, JP
      Occipital Horn syndrome in a 2-year-old boy

      CLINICAL DYSMORPHOLOGY
    81. Coutard, M
      Experimental cerebral aneurysms in the female heterozygous Blotchy mouse

      INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY
    82. Harrison, MD; Jones, CE; Dameron, CT
      Copper chaperones: function, structure and copper-binding properties

      JOURNAL OF BIOLOGICAL INORGANIC CHEMISTRY
    83. Horn, N; Tumer, Z
      Molecular genetics of intracellular copper transport

      JOURNAL OF TRACE ELEMENTS IN EXPERIMENTAL MEDICINE
    84. Loudianos, G; Dessi, V; Lovicu, M; Angius, A; Pirastu, M; Cao, A
      Haplotype and mutation analysis in Mediterranean patients with Wilson disease

      JOURNAL OF TRACE ELEMENTS IN EXPERIMENTAL MEDICINE
    85. Harris, ED; Reddy, MCM; Majumdar, S
      Menkes gene: A potential locus for copper metabolism

      JOURNAL OF TRACE ELEMENTS IN EXPERIMENTAL MEDICINE
    86. Lu, ZH; Cobine, P; Dameron, CT; Solioz, M
      How cells handle copper: A view from microbes

      JOURNAL OF TRACE ELEMENTS IN EXPERIMENTAL MEDICINE
    87. Nanji, MS; Cox, DW
      The copper chaperone Atox1 in canine copper toxicosis in Bedlington terriers

      GENOMICS
    88. Saito, T; Okabe, M; Hosokawa, T; Kurasaki, M; Hata, A; Endo, F; Nagano, K; Matsuda, I; Urakami, K; Saito, K
      Immunohistochemical determination of the Wilson Copper-transporting P-typeATPase in the brain tissues of the rat

      NEUROSCIENCE LETTERS
    89. Borjigin, J; Payne, AS; Deng, J; Li, XD; Wang, MM; Ovodenko, B; Gitlin, JD; Snyder, SH
      A novel pineal night-specific ATPase encoded by the Wilson disease gene

      JOURNAL OF NEUROSCIENCE
    90. Schaefer, M; Gitlin, JD
      Genetic disorders of membrane transport - IV. Wilson's disease and Menkes disease

      AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY
    91. Jensen, PY; Bonander, N; Moller, LB; Farver, O
      Cooperative binding of copper(I) to the metal binding domains in Menkes disease protein

      BIOCHIMICA ET BIOPHYSICA ACTA-PROTEIN STRUCTURE AND MOLECULAR ENZYMOLOGY
    92. Heydorn, K; Damsgaard, E; Horn, N
      Accumulated experience with prenatal diagnosis of Menkes disease by neutron activation analysis of chorionic villi specimens

      BIOLOGICAL TRACE ELEMENT RESEARCH
    93. Multhaup, G; Masters, CL
      Metal binding and radical generation of proteins in human neurological diseases and aging

      METAL IONS IN BIOLOGIAL SYSTEMS, VOL 36
    94. Abusaad, I; Mohammed, SN; Ogilvie, CM; Ritchie, J; Pohl, KRE; Docherty, Z
      Clinical expression of menkes disease in a girl with X;13 translocation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    95. Wang, MS; Schinzel, A; Kotzot, D; Balmer, D; Casey, R; Chodirker, BN; Gyftodimou, J; Petersen, MB; Lopez-Rangel, E; Robinson, WP
      Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affectingclinical outcome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    96. Ronce, N; Raynaud, M; Toutain, A; Moizard, MP; Colleaux, L; Gendrot, C; Briault, S; Moraine, C
      Evidence for a new X-linked mental retardation gene in Xp21-Xp22: Clinicaland molecular data in one family

      AMERICAN JOURNAL OF MEDICAL GENETICS
    97. Hirayama, T; Kieber, JJ; Hirayama, N; Kogan, M; Guzman, P; Nourizadeh, S; Alonso, JM; Dailey, WP; Dancis, A; Ecker, JR
      Responsive-to-antagonist1, a Menkes/Wilson disease-related copper transporter, is required for ethylene signaling in Arabidopsis

      CELL
    98. Templeton, DM
      Genetic determinants of trace element metabolism

      ANNALS OF CLINICAL AND LABORATORY SCIENCE
    99. Qian, YC; Mikeska, G; Harris, ED; Bratton, GR; Tiffany-Castiglioni, E
      Effect of lead exposure and accumulation on copper homeostasis in culturedC6 rat glioma cells

      TOXICOLOGY AND APPLIED PHARMACOLOGY
    100. Seidel, J; Vogt, S; Kirchner, M; Mentzel, HJ; Kauf, E; Zintl, F
      Clinical radiology genetics, and therapy of hereditary skeletal diseases. A historical overview on the occasion of the 100th birthday anniversary of Professor Erich Hassler

      MONATSSCHRIFT KINDERHEILKUNDE


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Documento generato il 22/01/21 alle ore 12:02:29