메뉴 건너뛰기




Volumn 89, Issue 5, 1996, Pages 355-359

Familial dementia due to a frameshift mutation in the caeruloplasmin gene

Author keywords

[No Author keywords available]

Indexed keywords

CERULOPLASMIN;

EID: 0030014701     PISSN: 00335622     EISSN: None     Source Type: Journal    
DOI: 10.1093/qjmed/89.5.355     Document Type: Article
Times cited : (39)

References (20)
  • 1
    • 26844542679 scopus 로고
    • Acute confusional states, amnesia and dementia
    • Isselbacher VJ, et al., eds. Ch. 25. New York, McGraw Hill
    • Brown MM, Hackinski VC. Acute confusional states, amnesia and dementia. In Isselbacher VJ, et al., eds. Harrison's Principles of Internal Medicine, Ch. 25. New York, McGraw Hill, 1994:137-46.
    • (1994) Harrison's Principles of Internal Medicine , pp. 137-146
    • Brown, M.M.1    Hackinski, V.C.2
  • 2
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • MacDonald ME, Ambrose CM, Dyuao MP, et al. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993; 72:971-83.
    • (1993) Cell , vol.72 , pp. 971-983
    • MacDonald, M.E.1    Ambrose, C.M.2    Dyuao, M.P.3
  • 3
    • 0026088977 scopus 로고
    • Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease
    • Goate A, Chartier-Harlin MC, Mullan M, et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 1991; 349:704-6.
    • (1991) Nature , vol.349 , pp. 704-706
    • Goate, A.1    Chartier-Harlin, M.C.2    Mullan, M.3
  • 4
    • 0029004341 scopus 로고
    • Cloning of a gene bearing missense mutations in early onset familial Alzheimer's disease
    • Sherrington R, Rogaeve I, Liang Y, et al. Cloning of a gene bearing missense mutations in early onset familial Alzheimer's disease. Nature 1995; 375:754-60.
    • (1995) Nature , vol.375 , pp. 754-760
    • Sherrington, R.1    Rogaeve, I.2    Liang, Y.3
  • 5
    • 0028903259 scopus 로고
    • Acaeruloplasminemia: Molecular characterization of this disorder of iron metabolism
    • Harris ZL, Takahashi Y, Miyajima H, et al. Acaeruloplasminemia: Molecular characterization of this disorder of iron metabolism. Proc Natl Acad Sci 1995; 92:2539-43.
    • (1995) Proc Natl Acad Sci , vol.92 , pp. 2539-2543
    • Harris, Z.L.1    Takahashi, Y.2    Miyajima, H.3
  • 6
    • 0028895749 scopus 로고
    • A mutation in the caeruloplasmin gene is associated with systemic hemosiderosis in humans
    • Yoshida K, Furihata K, Takeda S, et al. A mutation in the caeruloplasmin gene is associated with systemic hemosiderosis in humans. Nat Genet 1995; 9:267-72.
    • (1995) Nat Genet , vol.9 , pp. 267-272
    • Yoshida, K.1    Furihata, K.2    Takeda, S.3
  • 7
    • 0030027565 scopus 로고
    • Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease
    • Takahashi Y, Miyajima H, Shirabe S, Nagataki S, Suenaga A, Gitlin JD. Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease. Hum Mol Genet 1995; 5:81-4.
    • (1995) Hum Mol Genet , vol.5 , pp. 81-84
    • Takahashi, Y.1    Miyajima, H.2    Shirabe, S.3    Nagataki, S.4    Suenaga, A.5    Gitlin, J.D.6
  • 8
    • 0029007765 scopus 로고
    • Hereditary caeruloplasmin deficiency with hemosiderosis: A clinicopathological study of a Japanese family
    • Morita H, Ikeda S, Yamamoto K, et al. Hereditary caeruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family. Ann Neurol 1995; 37:646-56.
    • (1995) Ann Neurol , vol.37 , pp. 646-656
    • Morita, H.1    Ikeda, S.2    Yamamoto, K.3
  • 9
    • 0028090209 scopus 로고
    • Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus
    • Logan JI, Harveyson KB, Wisdom GB, et al. Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus. Q J Med 1994; 87:663-70.
    • (1994) Q J Med , vol.87 , pp. 663-670
    • Logan, J.I.1    Harveyson, K.B.2    Wisdom, G.B.3
  • 10
    • 0023501968 scopus 로고
    • Isolation and characterization of a processed gene for human caeruloplasmin
    • Koschinsky ML, Chow BK-C, Schwartz J, et al. Isolation and characterization of a processed gene for human caeruloplasmin. Biochem 1987; 26:7760-7.
    • (1987) Biochem , vol.26 , pp. 7760-7767
    • Koschinsky, M.L.1    Chow, B.K.-C.2    Schwartz, J.3
  • 11
    • 0025346979 scopus 로고
    • Primary structure of rat caeruloplasmin and analysis of tissue-specific gene expression during development
    • Fleming RE, Gitlin JD. Primary structure of rat caeruloplasmin and analysis of tissue-specific gene expression during development. J Biol Chem 1990; 265:7701-7.
    • (1990) J Biol Chem , vol.265 , pp. 7701-7707
    • Fleming, R.E.1    Gitlin, J.D.2
  • 12
    • 0025762012 scopus 로고
    • Gene deletions causing human genetic disease: Mechanisms of mutagenesis and the role of the local DNA sequence environment
    • Krawczak M, Cooper DN. Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Human Genet 1991; 86:425-41.
    • (1991) Human Genet , vol.86 , pp. 425-441
    • Krawczak, M.1    Cooper, D.N.2
  • 13
    • 0025729544 scopus 로고
    • Mechanisms of copper incorporation during the biosynthesis of human caeruloplasmin
    • Sato M, Gitlin JD. Mechanisms of copper incorporation during the biosynthesis of human caeruloplasmin. J Biol Chem 1991; 266:5128-34.
    • (1991) J Biol Chem , vol.266 , pp. 5128-5134
    • Sato, M.1    Gitlin, J.D.2
  • 14
    • 0026521529 scopus 로고
    • Mechanisms of caeruloplasmin biosynthesis in normal and copperdeficient rats
    • Gitlin JD, Schroeder JJ, Lee-Ambrose LM, et al. Mechanisms of caeruloplasmin biosynthesis in normal and copperdeficient rats. Biochem J 1992; 282:835-9.
    • (1992) Biochem J , vol.282 , pp. 835-839
    • Gitlin, J.D.1    Schroeder, J.J.2    Lee-Ambrose, L.M.3
  • 15
    • 0015217690 scopus 로고
    • The mobilization of iron from the perfused mammalian liver by a serum copper enzyme, ferroxidase I
    • Osaki S, Johnson DA, Frieden E. The mobilization of iron from the perfused mammalian liver by a serum copper enzyme, ferroxidase I. J Biol Chem 1971; 246:3018-23.
    • (1971) J Biol Chem , vol.246 , pp. 3018-3023
    • Osaki, S.1    Johnson, D.A.2    Frieden, E.3
  • 16
    • 0014905840 scopus 로고
    • The role of caeruloplasmin in iron metabolism
    • Roeser HP, Lee GR, Nacht S, et al. The role of caeruloplasmin in iron metabolism. J Clin Invest 1970; 49:2408-17.
    • (1970) J Clin Invest , vol.49 , pp. 2408-2417
    • Roeser, H.P.1    Lee, G.R.2    Nacht, S.3
  • 17
    • 0018966848 scopus 로고
    • Homozygosity for hemochromatosis; clinical manifestations
    • Edwards CO, Cartwright GE, Skolnick UH, et al. Homozygosity for hemochromatosis; clinical manifestations. Ann Int Med 1980; 93:511-25.
    • (1980) Ann Int Med , vol.93 , pp. 511-525
    • Edwards, C.O.1    Cartwright, G.E.2    Skolnick, U.H.3
  • 18
    • 0021035887 scopus 로고
    • Idiopathic hemochromatosis: Dementia and ataxia as presenting signs
    • Jones HR, Hedley-Whyte ET. Idiopathic hemochromatosis: Dementia and ataxia as presenting signs. Neurology 1983; 33:1479-83.
    • (1983) Neurology , vol.33 , pp. 1479-1483
    • Jones, H.R.1    Hedley-Whyte, E.T.2
  • 19
    • 0026635457 scopus 로고
    • Iron regulation in the brain: Histochemical, biochemical, and molecular considerations
    • Connor JR, Benkovic SA. Iron regulation in the brain: Histochemical, biochemical, and molecular considerations. Ann Neurol 1992; 32:S51-S61.
    • (1992) Ann Neurol , vol.32
    • Connor, J.R.1    Benkovic, S.A.2
  • 20
    • 0025126555 scopus 로고
    • Role of free radicals and catalytic metal ions in human disease: An overview
    • Halliwell B, Gutteridge JM. Role of free radicals and catalytic metal ions in human disease: an overview. Methods Enzymol 1990; 186:1-85.
    • (1990) Methods Enzymol , vol.186 , pp. 1-85
    • Halliwell, B.1    Gutteridge, J.M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.