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MeSH Review

Menkes Kinky Hair Syndrome

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Disease relevance of Menkes Kinky Hair Syndrome


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Chemical compound and disease context of Menkes Kinky Hair Syndrome


Biological context of Menkes Kinky Hair Syndrome


Anatomical context of Menkes Kinky Hair Syndrome


Gene context of Menkes Kinky Hair Syndrome


Analytical, diagnostic and therapeutic context of Menkes Kinky Hair Syndrome


  1. The Menkes/Wilson disease gene homologue in yeast provides copper to a ceruloplasmin-like oxidase required for iron uptake. Yuan, D.S., Stearman, R., Dancis, A., Dunn, T., Beeler, T., Klausner, R.D. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  2. Cytochrome c oxidase deficiency. DiMauro, S., Lombes, A., Nakase, H., Mita, S., Fabrizi, G.M., Tritschler, H.J., Bonilla, E., Miranda, A.F., DeVivo, D.C., Schon, E.A. Pediatr. Res. (1990) [Pubmed]
  3. Lyonization and the lines of Blaschko. Happle, R. Hum. Genet. (1985) [Pubmed]
  4. Copper Homeostasis in the CNS: A Novel Link Between the NMDA Receptor and Copper Homeostasis in the Hippocampus. Schlief, M.L., Gitlin, J.D. Mol. Neurobiol. (2006) [Pubmed]
  5. Pamidronate treatment improves bone mineral density in children with Menkes disease. Kanumakala, S., Boneh, A., Zacharin, M. J. Inherit. Metab. Dis. (2002) [Pubmed]
  6. Neuroimage in infants and children with mitochondrial disorders. Shian, W.J., Chi, C.S., Mak, S.C. Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui (1996) [Pubmed]
  7. Early copper-histidine treatment for Menkes disease. Tümer, Z., Horn, N., Tønnesen, T., Christodoulou, J., Clarke, J.T., Sarkar, B. Nat. Genet. (1996) [Pubmed]
  8. Menkes disease mutations and response to early copper histidine treatment. Kaler, S.G. Nat. Genet. (1996) [Pubmed]
  9. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Bull, P.C., Thomas, G.R., Rommens, J.M., Forbes, J.R., Cox, D.W. Nat. Genet. (1993) [Pubmed]
  10. Letter: Parenteral copper in Menkes' kinky-hair syndrome. Garnica, A.D., Fletcher, S.R. Lancet (1975) [Pubmed]
  11. A strong loss-of-function mutation in RAN1 results in constitutive activation of the ethylene response pathway as well as a rosette-lethal phenotype. Woeste, K.E., Kieber, J.J. Plant Cell (2000) [Pubmed]
  12. N-terminal domains of human copper-transporting adenosine triphosphatases (the Wilson's and Menkes disease proteins) bind copper selectively in vivo and in vitro with stoichiometry of one copper per metal-binding repeat. Lutsenko, S., Petrukhin, K., Cooper, M.J., Gilliam, C.T., Kaplan, J.H. J. Biol. Chem. (1997) [Pubmed]
  13. Kinetics of Cu(II) transport and accumulation by hepatocytes from copper-deficient mice and the brindled mouse model of Menkes disease. Darwish, H.M., Hoke, J.E., Ettinger, M.J. J. Biol. Chem. (1983) [Pubmed]
  14. Biochemical indicator for evaluation of connective tissue abnormalities in Menkes' disease. Kodama, H., Sato, E., Yanagawa, Y., Ozawa, H., Kozuma, T. J. Pediatr. (2003) [Pubmed]
  15. Golgi study on macular mutant mouse after copper therapy. Kawasaki, H., Yamano, T., Iwane, S., Shimada, M. Acta Neuropathol. (1988) [Pubmed]
  16. Menkes kinky hair syndrome: Is it a treatable disorder? Garnica, A.D., Frias, J.L., Rennert, O.M. Clin. Genet. (1977) [Pubmed]
  17. A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease. Dagenais, S.L., Adam, A.N., Innis, J.W., Glover, T.W. Am. J. Hum. Genet. (2001) [Pubmed]
  18. Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease. Ambrosini, L., Mercer, J.F. Hum. Mol. Genet. (1999) [Pubmed]
  19. Novel membrane traffic steps regulate the exocytosis of the Menkes disease ATPase. Cobbold, C., Ponnambalam, S., Francis, M.J., Monaco, A.P. Hum. Mol. Genet. (2002) [Pubmed]
  20. Early copper therapy in classic Menkes disease patients with a novel splicing mutation. Kaler, S.G., Buist, N.R., Holmes, C.S., Goldstein, D.S., Miller, R.C., Gahl, W.A. Ann. Neurol. (1995) [Pubmed]
  21. Diverse mutations in patients with Menkes disease often lead to exon skipping. Das, S., Levinson, B., Whitney, S., Vulpe, C., Packman, S., Gitschier, J. Am. J. Hum. Genet. (1994) [Pubmed]
  22. The Menkes disease ATPase (ATP7A) is internalized via a Rac1-regulated, clathrin- and caveolae-independent pathway. Cobbold, C., Coventry, J., Ponnambalam, S., Monaco, A.P. Hum. Mol. Genet. (2003) [Pubmed]
  23. A conditional mutation affecting localization of the Menkes disease copper ATPase. Suppression by copper supplementation. Kim, B.E., Smith, K., Meagher, C.K., Petris, M.J. J. Biol. Chem. (2002) [Pubmed]
  24. Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency. Kaler, S.G. Am. J. Clin. Nutr. (1998) [Pubmed]
  25. Reduced lysyl oxidase activity in skin fibroblasts from patients with Menkes' syndrome. Royce, P.M., Camakaris, J., Danks, D.M. Biochem. J. (1980) [Pubmed]
  26. Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. Okada, T., Shiono, Y., Hayashi, H., Satoh, H., Sawada, T., Suzuki, A., Takeda, Y., Yano, M., Michitaka, K., Onji, M., Mabuchi, H. Hum. Mutat. (2000) [Pubmed]
  27. An atomic-level investigation of the disease-causing A629P mutant of the Menkes protein, ATP7A. Banci, L., Bertini, I., Cantini, F., Migliardi, M., Rosato, A., Wang, S. J. Mol. Biol. (2005) [Pubmed]
  28. The yeast CLC chloride channel functions in cation homeostasis. Gaxiola, R.A., Yuan, D.S., Klausner, R.D., Fink, G.R. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  29. Characterization of the interaction between the Wilson and Menkes disease proteins and the cytoplasmic copper chaperone, HAH1p. Larin, D., Mekios, C., Das, K., Ross, B., Yang, A.S., Gilliam, T.C. J. Biol. Chem. (1999) [Pubmed]
  30. Trace metal metabolism in cultured skin fibroblasts of the mottled mouse: response to metallothionein inducers. Packman, S., O'Toole, C. Pediatr. Res. (1984) [Pubmed]
  31. X-linked recessive Menkes disease: identification of partial gene deletions in affected males. Poulsen, L., Horn, N., Heilstrup, H., Lund, C., Tümer, Z., Møller, L.B. Clin. Genet. (2002) [Pubmed]
  32. Brindled mottled mouse: morphological changes of brain and visceral organs in hemizygous males following copper supplementation. Suzuki, K., Nagara, H. Acta Neuropathol. (1981) [Pubmed]
  33. Prenatal diagnosis of Menkes disease by genetic analysis and copper measurement. Gu, Y.H., Kodama, H., Sato, E., Mochizuki, D., Yanagawa, Y., Takayanagi, M., Sato, K., Ogawa, A., Ushijima, H., Lee, C.C. Brain Dev. (2002) [Pubmed]
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