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Volumn 270, Issue 1, 1999, Pages 1-4

The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease

Author keywords

Candidate gene; Family studies; Genetics; Parkinson's disease; Ubiquitin carboxy terminal hydrolase L1

Indexed keywords

HYDROLASE; ISOLEUCINE; METHIONINE; UBIQUITIN;

EID: 0033597972     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0304-3940(99)00465-6     Document Type: Article
Times cited : (64)

References (20)
  • 4
    • 0011857673 scopus 로고    scopus 로고
    • Antibodies to non-amyloid component of plaques (NACP) specifically label Lewy bodies and Lewy neurites, but not other inclusions in neurodegenerative diseases
    • Dickson D.W., Farrer M.J., Mehta N.D., Perez-Tur J., Tiseo P., Yen S-H., Hardy J. Antibodies to non-amyloid component of plaques (NACP) specifically label Lewy bodies and Lewy neurites, but not other inclusions in neurodegenerative diseases. J. Neuropath. Exp. Neurol. 57:1998;516.
    • (1998) J. Neuropath. Exp. Neurol. , vol.57 , pp. 516
    • Dickson, D.W.1    Farrer, M.J.2    Mehta, N.D.3    Perez-Tur, J.4    Tiseo, P.5    Yen, S.-H.6    Hardy, J.7
  • 5
    • 0026326653 scopus 로고
    • The gene for human neurone specific ubiquitin C-terminal hydrolase (UCHL1, PGP9.5) maps to chromosome 4p14
    • Edwards Y.H., Fox M.F., Povey S., Hinks L.J., Thompson R.J., Day I.N. The gene for human neurone specific ubiquitin C-terminal hydrolase (UCHL1, PGP9.5) maps to chromosome 4p14. Ann. Hum. Genet. 55:1991;273-278.
    • (1991) Ann. Hum. Genet. , vol.55 , pp. 273-278
    • Edwards, Y.H.1    Fox, M.F.2    Povey, S.3    Hinks, L.J.4    Thompson, R.J.5    Day, I.N.6
  • 7
    • 0026514953 scopus 로고
    • Accuracy of clinical diagnosis of idiopathic Parkinson's disease: A clinico-pathological study of 100 cases
    • Hughes A.J., Daniel S.E., Kilford L., Lees A.J. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J. Neurol. Neurosurg. Psychiatry. 55:1992;181-184.
    • (1992) J. Neurol. Neurosurg. Psychiatry , vol.55 , pp. 181-184
    • Hughes, A.J.1    Daniel, S.E.2    Kilford, L.3    Lees, A.J.4
  • 10
    • 0032502276 scopus 로고    scopus 로고
    • Substrate specificity of deubiquitinating enzymes: Ubiquitin C-terminal hydrolases
    • Larsen C.N., Krantz B.A., Wilkinson K.D. Substrate specificity of deubiquitinating enzymes: ubiquitin C-terminal hydrolases. Biochemistry. 37:1998;3358-3368.
    • (1998) Biochemistry , vol.37 , pp. 3358-3368
    • Larsen, C.N.1    Krantz, B.A.2    Wilkinson, K.D.3
  • 12
    • 0033525009 scopus 로고    scopus 로고
    • Low frequency of pathogenic mutations in the ubiquitin carboxy terminal hydrolase gene in familial Parkinson's disease
    • Lincoln S., Vaughan J.R., Wood N.W., Baker M., Adamson J., Gwinn-Hardy K., Lynch T., Hardy J., Farrer M. Low frequency of pathogenic mutations in the ubiquitin carboxy terminal hydrolase gene in familial Parkinson's disease. NeuroReport. 10:(2):1999;427-429.
    • (1999) NeuroReport , vol.10 , Issue.2 , pp. 427-429
    • Lincoln, S.1    Vaughan, J.R.2    Wood, N.W.3    Baker, M.4    Adamson, J.5    Gwinn-Hardy, K.6    Lynch, T.7    Hardy, J.8    Farrer, M.9
  • 13
    • 0025326719 scopus 로고
    • Ubiquitin carboxyl-terminal hydrolase (PGP 9.5) is selectively present in ubiquitinated inclusion bodies characteristic of human neurodegenerative diseases
    • Lowe J., McDermott H., Landon M., Mayer R.J., Wilkinson K.D. Ubiquitin carboxyl-terminal hydrolase (PGP 9.5) is selectively present in ubiquitinated inclusion bodies characteristic of human neurodegenerative diseases. J. Pathol. 161:1990;153-160.
    • (1990) J. Pathol. , vol.161 , pp. 153-160
    • Lowe, J.1    McDermott, H.2    Landon, M.3    Mayer, R.J.4    Wilkinson, K.D.5
  • 15
    • 0025834561 scopus 로고
    • A clinical and genetic study of familial Parkinson's disease
    • Maraganore D.M., Harding A.E., Marsden C.D. A clinical and genetic study of familial Parkinson's disease. Mov. Disord. 6:1991;205-211.
    • (1991) Mov. Disord. , vol.6 , pp. 205-211
    • Maraganore, D.M.1    Harding, A.E.2    Marsden, C.D.3
  • 16
    • 0023140474 scopus 로고
    • Ubiquitin is a component of paired helical filaments in Alzheimer's disease
    • Mori H., Kondo J., Ihara Y. Ubiquitin is a component of paired helical filaments in Alzheimer's disease. Science. 235:1987;1641-1644.
    • (1987) Science , vol.235 , pp. 1641-1644
    • Mori, H.1    Kondo, J.2    Ihara, Y.3
  • 19
    • 1642618076 scopus 로고    scopus 로고
    • Chromosome 6-linked autosomal recessive early-onset Parkinsonism: Linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family. The French Parkinson's Disease Genetics Study Group, and the European Consortium on Genetic Susceptibility in Parkinson's Disease
    • Tassin J., Dürr A., de Broucker T., Abbas N., Bonifati V., De Michele G., Bonnet A.M., Broussolle E., Pollak P., Vidailhet M., De Mari M., Marconi R., Medjbeur S., Filla A., Meco G., Agid Y., Brice A. Chromosome 6-linked autosomal recessive early-onset Parkinsonism: linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family. The French Parkinson's Disease Genetics Study Group, and the European Consortium on Genetic Susceptibility in Parkinson's Disease. Am. J. Hum. Genet. 63:1998;88-94.
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 88-94
    • Tassin, J.1    Dürr, A.2    De Broucker, T.3    Abbas, N.4    Bonifati, V.5    De Michele, G.6    Bonnet, A.M.7    Broussolle, E.8    Pollak, P.9    Vidailhet, M.10    De Mari, M.11    Marconi, R.12    Medjbeur, S.13    Filla, A.14    Meco, G.15    Agid, Y.16    Brice, A.17


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.