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Volumn 5, Issue 4, 1999, Pages 163-168

Positional cloning of the autosomal recessive juvenile parkinsonism (AR-JP) gene and its diversity in deletion mutations

Author keywords

Autosomal recessive juvenile gene; Parkinsonism gene; Positional cloning

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; CLONING; CONTROLLED STUDY; DELETION MUTANT; EXON; HUMAN; JUVENILE; LEWY BODY; PARKINSONISM; POINT MUTATION; PRIORITY JOURNAL;

EID: 0032818824     PISSN: 13538020     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1353-8020(99)00032-2     Document Type: Article
Times cited : (9)

References (31)
  • 1
    • 0027518076 scopus 로고
    • Early-onset parkinsonism with diurnal fluctuation: Clinical and pathological studies
    • Yamamura Y., Arihiro K., Kohriyama T., Nakamura S. Early-onset parkinsonism with diurnal fluctuation: clinical and pathological studies. Rinshoshinkeigaku (Tokyo). 33:1993;491-496.
    • (1993) Rinshoshinkeigaku (Tokyo) , vol.33 , pp. 491-496
    • Yamamura, Y.1    Arihiro, K.2    Kohriyama, T.3    Nakamura, S.4
  • 3
    • 0015590978 scopus 로고
    • Paralysis agitans of early onset with marked diurnal fluctuation of symptoms
    • Yamamura Y., Sobue I., Ando K., Iida M., Yanagi T. Paralysis agitans of early onset with marked diurnal fluctuation of symptoms. Neurology. 23:1973;239-244.
    • (1973) Neurology , vol.23 , pp. 239-244
    • Yamamura, Y.1    Sobue, I.2    Ando, K.3    Iida, M.4    Yanagi, T.5
  • 4
    • 0030015934 scopus 로고    scopus 로고
    • Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism
    • Ishikawa A., Tsuji S. Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism. Neurology. 47:1996;160-169.
    • (1996) Neurology , vol.47 , pp. 160-169
    • Ishikawa, A.1    Tsuji, S.2
  • 5
    • 0026740057 scopus 로고
    • New insights into the cause of Parkinson's disease
    • Jenner P., Schapira A.H.V., Marsden C.D. New insights into the cause of Parkinson's disease. Neurology. 42:1992;2241-2250.
    • (1992) Neurology , vol.42 , pp. 2241-2250
    • Jenner, P.1    Schapira, A.H.V.2    Marsden, C.D.3
  • 8
    • 0027426263 scopus 로고
    • Absence of electron transport (Rho0 state) restores growth of a manganese-superoxide dismutase-deficient Saccharomyces cerevisiae in hyperoxia
    • Guiod D.M., McCord J.M., Wright R.M., Repine J.E. Absence of electron transport (Rho0 state) restores growth of a manganese-superoxide dismutase-deficient Saccharomyces cerevisiae in hyperoxia. J Biol Chem. 268:1993;26699-26703.
    • (1993) J Biol Chem , vol.268 , pp. 26699-26703
    • Guiod, D.M.1    McCord, J.M.2    Wright, R.M.3    Repine, J.E.4
  • 9
    • 0024164205 scopus 로고
    • Biosynthesis and regulation of superoxide dismutases
    • Hassan H.M. Biosynthesis and regulation of superoxide dismutases. Free Radic Biol Med. 5:1988;377-385.
    • (1988) Free Radic Biol Med , vol.5 , pp. 377-385
    • Hassan, H.M.1
  • 11
    • 0030582372 scopus 로고    scopus 로고
    • Structural dimorphism in the mitochondrial targetting sequence in the MnSOD gene-A predictive evidence for conformational change to influence mitochondrial transport and a study of alleic association in Parkinson's disease
    • Shimoda-Matsubayashi S., Matsumine H., Kobayashi T., Nakagawa-Hattori Y., Shimizu Y., Mizuno Y. Structural dimorphism in the mitochondrial targetting sequence in the MnSOD gene-A predictive evidence for conformational change to influence mitochondrial transport and a study of alleic association in Parkinson's disease. Biochem Biophys Res Commun. 226:1996;561-565.
    • (1996) Biochem Biophys Res Commun , vol.226 , pp. 561-565
    • Shimoda-Matsubayashi, S.1    Matsumine, H.2    Kobayashi, T.3    Nakagawa-Hattori, Y.4    Shimizu, Y.5    Mizuno, Y.6
  • 12
    • 0031844291 scopus 로고    scopus 로고
    • Early onset parkinsonism with diurnal fluctuation maps to a locus for juvenile parkinsonism
    • Matsumine H., Yamamura Y., Kobayashi T., Nakamura S., Kuzuhara S., Mizuno Y. Early onset parkinsonism with diurnal fluctuation maps to a locus for juvenile parkinsonism. Neurology. 50:1998;1340-1345.
    • (1998) Neurology , vol.50 , pp. 1340-1345
    • Matsumine, H.1    Yamamura, Y.2    Kobayashi, T.3    Nakamura, S.4    Kuzuhara, S.5    Mizuno, Y.6
  • 15
    • 0025360747 scopus 로고
    • A uniform isopeptide-linked multiubiquitin chain is sufficient to target substrate for degradation in ubiquitin-mediated proteolysis
    • Gregori L., Poosch M.S., Cousins G., Chau V. A uniform isopeptide-linked multiubiquitin chain is sufficient to target substrate for degradation in ubiquitin-mediated proteolysis. J Biol Chem. 265:1990;8354-8357.
    • (1990) J Biol Chem , vol.265 , pp. 8354-8357
    • Gregori, L.1    Poosch, M.S.2    Cousins, G.3    Chau, V.4
  • 17
    • 0028018268 scopus 로고
    • The ubiquitin-proteasome proteolytic pathway
    • Ciechanover A. The ubiquitin-proteasome proteolytic pathway. Cell. 79:1994;13-21.
    • (1994) Cell , vol.79 , pp. 13-21
    • Ciechanover, A.1
  • 18
    • 0028935165 scopus 로고
    • Ubiquitin, proteasomes, and the regulation of intracellular protein degradation
    • Hochstrasser M. Ubiquitin, proteasomes, and the regulation of intracellular protein degradation. Curr Opin Cell Biol. 7:1995;215-223.
    • (1995) Curr Opin Cell Biol , vol.7 , pp. 215-223
    • Hochstrasser, M.1
  • 21
    • 0028861418 scopus 로고    scopus 로고
    • The PHD finger: Implications for chromatin-mediated transcriptional regulation
    • Asaland R., Gibson T.J., Stewart A.F. The PHD finger: implications for chromatin-mediated transcriptional regulation. Trends Biochem Sci. 20:1996;56-59.
    • (1996) Trends Biochem Sci , vol.20 , pp. 56-59
    • Asaland, R.1    Gibson, T.J.2    Stewart, A.F.3
  • 25
    • 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., Durr 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    Durr, 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
  • 26
    • 0023917701 scopus 로고    scopus 로고
    • Alz-50, ubiquitin, and tau immunoreactivity of neurofibrillary tangles, Pick bodies and Lewy bodies
    • Love S., Saitoh T., Quijada S., Cole G.M., Terry R.D. Alz-50, ubiquitin, and tau immunoreactivity of neurofibrillary tangles, Pick bodies and Lewy bodies. J Neuropathol Exp Neurol. 47:1998;393-405.
    • (1998) J Neuropathol Exp Neurol , vol.47 , pp. 393-405
    • Love, S.1    Saitoh, T.2    Quijada, S.3    Cole, G.M.4    Terry, R.D.5
  • 27
    • 0029866793 scopus 로고    scopus 로고
    • Purification and characterization of Lewy bodies from the brains of patients with diffuse Lewy body disease
    • Iwatsubo T., Yamaguchi H., Fujimuro M., Yokosawa H., Ihara Y., Trojanowski J.Q., Lee V.M. Purification and characterization of Lewy bodies from the brains of patients with diffuse Lewy body disease. Am J Pathol. 148:1996;1517-1529.
    • (1996) Am J Pathol , vol.148 , pp. 1517-1529
    • Iwatsubo, T.1    Yamaguchi, H.2    Fujimuro, M.3    Yokosawa, H.4    Ihara, Y.5    Trojanowski, J.Q.6    Lee, V.M.7
  • 29
    • 0032502276 scopus 로고    scopus 로고
    • Substrate specificity of deubiquitinating enzymes: Ubiquitin C-terminal hydrolases
    • Larsen C., 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.1    Krantz, B.A.2    Wilkinson, K.D.3
  • 30
    • 0025326719 scopus 로고
    • Ubiquitin carboxyl-terminal hydrolase (PGP 9.5) is selectively present in ubiquitinated inclusion bodies characteristic of human neurodegenerative diseases
    • Lewe 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
    • Lewe, J.1    McDermott, H.2    Landon, M.3    Mayer, R.J.4    Wilkinson, K.D.5
  • 31
    • 0024593537 scopus 로고
    • The tail of ubiquitin precursor are ribosomal proteins whose fusion to ubiquitin facilitates ribosome biogenesis
    • Finley D., Bartel B., Varshavsky A. The tail of ubiquitin precursor are ribosomal proteins whose fusion to ubiquitin facilitates ribosome biogenesis. Nature. 338:1989;394-401.
    • (1989) Nature , vol.338 , pp. 394-401
    • Finley, D.1    Bartel, B.2    Varshavsky, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.