タイトル厚生労働科学研究費補助金（難治性疾患克服研究事業）「Menkes 病・occipital horn 症候群の実態調査、早期診断基準確立、治療法開発に関する研究」平成23-24年度 総合研究報告書

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厚生労働科学研究費補助金（難治性疾患克服研究事業）「Menkes 病・occipital horn 症候群の実態調査、早期診断基準確立、治療法開発に関する研究」平成23-24年度 総合研究報告書

6. Kodama H, Fujisawa C. Copper metabolism and inherited copper transportdisorders: molecular mechanisms, screening, and treatment. Metallomics, 1:42-52,2009.7. Kodama H, Fujisawa C, Bhadhprasit W: Inherited copper transport disorders:Biochmecal metabolism, diagnosis, and treatment. Current Drug Metab, 13:237-250, 2012.8. Kaler SG. ATP7A-related copper transport diseases-emerging concepts and futuretrends. Nat Rev Neurol. Jan, 7(1): 15-29, 2011.9. Vulpe, C.; Levinson, B.; Whitney, S.; Packman, S.; Gitschier, J. Isolation of acandidate gene for Menkes disease and evidence that it encodes acopper-transporting ATPase. Nat. Genet., 3: 7-13, 1993.10. Chelly, J.; Tumer, Z.; Tonnesen, T.; Petterson, A.; Ishikawa-Brush, Y.; Tommerup,N.; Horn, N.; Monaco, A.P. Isolation of a candidate gene for Menkes disease thatencodes a potential heavy metal binding protein. Nat. Genet., 3(1): 14-19, 1993.11. Mercer, J.F.; Livingston, J.; Hall, B.; Paynter, J.A.; Begy, C.; Chandrasekharappa,S.; Lockhart, P.; Grimes, A.; Bhave, M.; Siemieniak, D.; Glover, T.W. Isolation of apartial candidate gene for Menkes disease by positional cloning. Nat. Genet., 3(1):20-25, 1993.12. Gu YH, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, LeeCC. ATP7A gene mutations in 16 patients with Menkes disease and a patient withoccipital horn syndrome. Am J Med Genet., 99(3): 217-22, 2001.13. Moizard MP, Ronce N, Blesson S, Bieth E, Burglen L, Mignot C, Mortemousque I,Marmin N, Dessay B, Danesino C, Feillet F, Castelnau P, Toutain A, Moraine C,Raynaud M. Twenty-five novel mutations including duplications in the ATP7A gene.Clin Genet., 79(3):243-253,2011.14. Donsante A, Tang J, Godwin SC, Holmes CS, Goldstein DS, Bassuk A, Kaler SG.Differences in ATP7A gene expression underlie intrafamilial variability in Menkesdisease/occipital horn syndrome. J Med Genet., 44(8):492-7, 200715. Tang J, Robertson S, Lem KE, Godwin SC, Kaler SG. Functional copper transportexplains neurologic sparing in occipital horn syndrome. Genet Med. 8(11):711-8,2006.16. Borm B, Moller LB, Hausser I, Emeis M, Baerlocher K, Horn N, Rossi R. Variableclinical expression of an identical mutation in the ATP7A gene for Menkesdisease/occipital horn syndrome in three affected males in a single family. J Pediatr.,145(1):119-21, 2004.17. Dagenais SL, Adam AN, Innis JW, Glover TW. A novel frameshift mutation in exon23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease.71