Fol. Biol. 2017, 63, 165-173
https://doi.org/10.14712/fb2017063050165
Molecular Diagnostics of Copper-Transporting Protein Mutations Allows Early Onset Individual Therapy of Menkes Disease
References
1. 2011) The architecture of CopA from Archeaoglobus fulgidus studied by cryo-electron microscopy and computational docking. Structure 19, 1219-1232.
< , G. S., Wu, C. C., Cardozo, T., Stokes, D. L. (https://doi.org/10.1016/j.str.2011.05.014>
2. 2014) Copper-transporting P-type ATPases use a unique ion-release pathway. Nat. Struct. Mol. Biol. 21, 43-48.
< , M., Mattle, D., Sitsel, O., Klymchuk, T., Nielsen, A. M., Moller, L. B., White, S. H., Nissen, P., Gourdon, P. (https://doi.org/10.1038/nsmb.2721>
3. 2006) Expresso: automatic incorporation of structural information in multiple sequence alignments using 3D-Coffee. Nucleic Acids Res. 34, W604-608.
< , F., Moretti, S, Poirot O., Audic, S., Dumas, P., Schaeli, B., Keduas, V., Notredame, C. (https://doi.org/10.1093/nar/gkl092>
4. 1999) Molecular mechanisms of copper homeostasis. Biochem. Biophys. Res. Commun. 261, 225-232.
< , J., Voskoboinik, I., Mercer, J. F. (https://doi.org/10.1006/bbrc.1999.1073>
5. 1993) Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nat. Genet. 3, 14-19.
< , J., Tumer, Z., Tonnesen, T., Petterson, A., Ishikawa- Brush, Y., Tommerup, N., Horn, N., Monaco, A. P. (https://doi.org/10.1038/ng0193-14>
6. 1978) Menkes’s syndrome. Report of a patient treated from 21 days of age with parenteral copper. Arch. Dis. Child. 53, 956-958.
< , P., Wheeler, E. M., Roberts, P. F., Jones, R. D. (https://doi.org/10.1136/adc.53.12.956>
7. 1995) Similar splicing mutations of the Menkes/ mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. Am. J. Hum. Genet. 56, 570-576.
, S., Levinson, B., Vulpe, C., Whitney, S., Gitschier, J., Packman, S. (
8. 1990) Cytochrome c oxidase deficiency. Pediatr. Res. 28, 536-541.
< , S., Lombes, A., Nakase, H., Mita, S., Fabrizi, G. M., Tritschler, H. J., Bonilla, E., Miranda, A. F., DeVivo, D. C., Schon, E. A. (https://doi.org/10.1203/00006450-199011000-00025>
9. 1992) Studying the platelet cytoskeleton in Triton X-100 lysates. Meth. Enzymol. 215, 42-58.
< , J. E., Reynolds, C. C., Boyles, J. K. (https://doi.org/10.1016/0076-6879(92)15052-E>
10. 1975) Copper infusion therapy in trichopoliodystrophy. J. Pediatr. 86, 216-220.
< , W. D., Scrutton, M. C. (https://doi.org/10.1016/S0022-3476(75)80471-9>
11. 2012. In utero copper treatment for Menkes disease associated with a severe ATP7A mutation. Mol. Genet. Metab. 107, 222-228.
< , M. R., Macri, C. J., Holmes, C. S., Goldstein, D. S., Jacobson, B. E., Centeno, J. A., Popek, E. J., Gahl, W. A, Kaler, S. G. https://doi.org/10.1016/j.ymgme.2012.05.008>
12. 2001) Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis. Mol. Genet. Metab. 73, 86-90.
< , S., Cho, K., Ryu, K., Kim, J., Pai, K., Kim, M., Park, H., Yoo, O. (https://doi.org/10.1006/mgme.2001.3169>
13. 2001) The metallochaperone Atox1 plays a critical role in perinatal copper homeostasis. Proc. Natl. Acad. Sci. USA 98, 6848-6852.
< , I., Faisst, A., Prohaska, J., Chen, J., Gruss, P., Gitlin, J. D. (https://doi.org/10.1073/pnas.111058498>
14. 1994) Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nat. Genet. 8, 195-202.
< , S. G., Gallo, L. K., Proud, V. K., Percy, A. K., Mark, Y., Segal, N. A., Goldstein, D. S., Holmes, C. S., Gahl, W. A. (https://doi.org/10.1038/ng1094-195>
15. 1998) Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency. Am. J. Clin. Nutr. 67, 1029S-1034S.
< , S. G. (https://doi.org/10.1093/ajcn/67.5.1029S>
16. 2008). Neonatal diagnosis and treatment of Menkes disease. N. Engl. J. Med. 358, 605-614.
< , S. G., Holmes, C. S., Goldstein, D. S., Tang, J., Godwin, S. C., Donsante, A., Liew, C. J., Sato, S., Patronas, N. (https://doi.org/10.1056/NEJMoa070613>
17. 2014) Neurodevelopment and brain growth in classic Menkes disease is influenced by age and symptomatology at initiation of copper treatment. J. Trace Elem. Med. Biol. 28, 427-430.
< , S. G. (https://doi.org/10.1016/j.jtemb.2014.08.008>
18. 2010) Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Am. J. Hum. Genet. 86, 343-352.
< , M. L., Nicholson, G. A., Kaler, S. G., Kowalski, B., Mercer, J. F., Tang, J., Llanos, R. M., Chu, S., Takata, R. I., Speck-Martins, C. E., Baets, J., Almeida-Souza, L., Fischer, D., Timmerman, V., Taylor, P. E., Scherer, S. S., Ferguson, T. A., Bird, T. D., De Jonghe, P., Feely, S, M., Shy, M. E., Garbern, J. Y. (https://doi.org/10.1016/j.ajhg.2010.01.027>
19. 1999) Molecular genetics and pathophysiology of Menkes disease. Pediatr. Int. 41, 430-435.
< , H., Murata, Y. (https://doi.org/10.1046/j.1442-200x.1999.01091.x>
20. 2002) Rapid and robust screening of the Menkes disease/occipital horn syndrome gene. Genet. Test. 6, 255-260.
< , P. C., McAndrew, P. E., Kaler, S. G. (https://doi.org/10.1089/10906570260471778>
21. 1951) Protein measurement with the Folin phenol reagent. J. Biol. Chem. 193, 265-275.
< , O. H., Rosebrough, N. J., Farr, A. L., Randall, R. J. (https://doi.org/10.1016/S0021-9258(19)52451-6>
22. 2003) Function and regulation of the mammalian copper-transporting ATPases: insights from biochemical and cell biological approaches. J. Membr. Biol. 191, 1-12.
< , S., Petris, M. J. (https://doi.org/10.1007/s00232-002-1040-6>
23. 1962) A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics 29, 764-779.
, J. H., Alter, M., Steigleder, G. K., Weakley, D. R., Sung, J. H. (
24. 1993) Isolation of a partial candidate gene for Menkes disease by positional cloning. Nat. Genet. 3, 20-25.
< , J. F., Livingston, J., Hall, B., Paynter, J. A., Begy, C., Chandrasekharappa, S., Lockhart, P., Grimes, A., Bhave, M., Siemieniak, D., et al. (https://doi.org/10.1038/ng0193-20>
25. 2002) Tissue localization of the copper chaperone ATOX1 and its potential role in disease. Mamm. Genome 13, 563-568.
< , S. D., Helmle, K. E., Prat, L. M., Cox, D. W. (https://doi.org/10.1007/s00335-002-2172-9>
26. 1996) 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. EMBO J. 15, 6084-6095.
< , M. J., Mercer, J. F., Culvenor, J. G., Lockhart, P., Gleeson, P. A., Camakaris, J. (https://doi.org/10.1002/j.1460-2075.1996.tb00997.x>
27. 1987) Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex. J. Pediatr. 111, 525-533.
< , B. H., MacMillan, H., Petrova-Benedict, R., Sherwood, W. G. (https://doi.org/10.1016/S0022-3476(87)80112-9>
28. 1994) Biochemical and molecular investigations in respiratory chain deficiencies. Clin. Chim. Acta 228, 35-51.
< , P., Chretien, D., Bourgeron, T., Gerard, B., Rotig, A., Saudubray, J. M., Munnich, A. (https://doi.org/10.1016/0009-8981(94)90055-8>
29. 1993) Comparative protein modelling by satisfaction of spatial restraints. J. Mol. Biol, 234, 779-815.
< , A., Blundell, T. L. (https://doi.org/10.1006/jmbi.1993.1626>
30. 1993) Copperhistidine therapy for Menkes disease. J. Pediatr. 123, 828-830.
< , B., Lingertat-Walsh, K., Clarke, J. T. (https://doi.org/10.1016/S0022-3476(05)80870-4>
31. 2008) Analysis of the human Atox 1 homologue in Wilson patients. World J. Gastroenterol. 14, 2383-2387.
< , I., Schaefer, M., Reichert, J., Stremmel, W. (https://doi.org/10.3748/wjg.14.2383>
32. Srere, P. A. (1969) Citrate synthase. In: Methods in Enzymology, pp. 3–11, Elsevier.
33. 1991) Incidence of Menkes disease. Hum. Genet. 86, 408-410.
< , T., Kleijer, W. J., Horn, N. (https://doi.org/10.1007/BF00201846>
34. 1995) Characterization of the exon structure of the Menkes disease gene using vectorette PCR. Genomics 26, 437-442.
< , Z., Vural, B., Tonnesen, T., Chelly, J., Monaco, A. P., Horn, N. (https://doi.org/10.1016/0888-7543(95)80160-N>
35. 1997) Identification of point mutations in 41 unrelated patients affected with Menkes disease. Am. J. Hum. Genet. 60, 63-71.
, Z., Lund, C., Tolshave, J., Vura,l B., Tonnesen, T., Horn, N. (
36. 2003) Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A. Hum. Mutat. 22, 457-464.
< , Z., Birk Moller, L., Horn N. (https://doi.org/10.1002/humu.10287>
37. 1993) Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat Genet 3, 7-13.
< , C., Levinson, B., Whitney, S., Packman, S., Gitschier, J. (https://doi.org/10.1038/ng0193-7>
38. 1993) Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem. Biophys. Res. Commun. 197, 271-277.
< , Y., Heiny, M. E., Gitlin, J. D. (https://doi.org/10.1006/bbrc.1993.2471>
39. 2015) Direct interactions of adaptor protein complexes 1 and 2 with the copper transporter ATP7A mediate its anterograde and retrograde trafficking. Hum. Mol. Genet. 24, 2411-2425.
< , L., Kaler S. G. (https://doi.org/10.1093/hmg/ddv002>