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      파킨슨병의 유전인자 고찰 = Genetic Basis of Parkinson Disease

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      https://www.riss.kr/link?id=A101608439

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      다국어 초록 (Multilingual Abstract)

      Parkinson disease (PD) is a neurodegenerative disease characterized by the selective loss of dopaminergic neurons from the substantia nigra pars compacta leading to the impairment of motor functions. Recent genetic studies have uncovered several genes involved in inherited forms of the disease. These gene products are likely to be implicated in the biochemical pathways underlying the etiology of sporadic PD. Our review discusses the pathogenetic mechanisms of the mutated genes.
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      Parkinson disease (PD) is a neurodegenerative disease characterized by the selective loss of dopaminergic neurons from the substantia nigra pars compacta leading to the impairment of motor functions. Recent genetic studies have uncovered several genes...

      Parkinson disease (PD) is a neurodegenerative disease characterized by the selective loss of dopaminergic neurons from the substantia nigra pars compacta leading to the impairment of motor functions. Recent genetic studies have uncovered several genes involved in inherited forms of the disease. These gene products are likely to be implicated in the biochemical pathways underlying the etiology of sporadic PD. Our review discusses the pathogenetic mechanisms of the mutated genes.

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      참고문헌 (Reference)

      1 "alpha-Synuclein locus triplication causes Parkinson's disease" 302 : 841-, 2003

      2 "Ubiquitination of a new form of alpha-synuclein by parkin from human brain:implications for Parkinson's disease" 293 : 263-269, 2001

      3 "Ubiquitinated neuronal inclusions in the neostriatum in patients with amyotrophic lateral sclerosis with and without dementia--a study of 60 patients 31 to 87 years of age" 20 : 47-52, 2001

      4 "The ubiquitin pathway in Parkinson's disease" 395 : 451-452, 1998

      5 "The synucleins:a family of proteins involved in synaptic function,plasticity,neurodegeneration and disease" 21 : 249-254, 1998

      6 "The striatal dopaminergic deficit is dependent on the number of mutant alleles in a family with mutations in the parkin gene:evidence for enzymatic parkin function in humans" 323 : 50-54, 2002

      7 "The genetic basis of Parkinson's disease" 73 : 363-370, 2000

      8 "Synucleinopathies:Clinical and Pathological Implications" 58 : 186-190, 2001

      9 "Synphilin-1 associates with alpha- synuclein and promotes the formation of cytosolic inclusions" 22 : 110-114, 1999

      10 "Risk of Parkinson's disease among first-degree relatives:A community-based study" 47 : 155-160, 1996

      1 "alpha-Synuclein locus triplication causes Parkinson's disease" 302 : 841-, 2003

      2 "Ubiquitination of a new form of alpha-synuclein by parkin from human brain:implications for Parkinson's disease" 293 : 263-269, 2001

      3 "Ubiquitinated neuronal inclusions in the neostriatum in patients with amyotrophic lateral sclerosis with and without dementia--a study of 60 patients 31 to 87 years of age" 20 : 47-52, 2001

      4 "The ubiquitin pathway in Parkinson's disease" 395 : 451-452, 1998

      5 "The synucleins:a family of proteins involved in synaptic function,plasticity,neurodegeneration and disease" 21 : 249-254, 1998

      6 "The striatal dopaminergic deficit is dependent on the number of mutant alleles in a family with mutations in the parkin gene:evidence for enzymatic parkin function in humans" 323 : 50-54, 2002

      7 "The genetic basis of Parkinson's disease" 73 : 363-370, 2000

      8 "Synucleinopathies:Clinical and Pathological Implications" 58 : 186-190, 2001

      9 "Synphilin-1 associates with alpha- synuclein and promotes the formation of cytosolic inclusions" 22 : 110-114, 1999

      10 "Risk of Parkinson's disease among first-degree relatives:A community-based study" 47 : 155-160, 1996

      11 "Rare genetic mutations shed light on the pathogenesis of Parkinson disease" 111 : 145-151, 2003

      12 "Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene" 49 : 2001

      13 "Pathobiology of the Lewy body" 80 : 313-324, 1999

      14 "Parkinson-like neurodegeneration induced by targeted overexpression of alpha-synuclein in the nigrostriatal system" 22 : 2780-2791, 2002

      15 "Parkinson's disease:a test of the multifactorial etiologic hypothesis" 43 : 1173-1180, 1993

      16 "Parkinson's disease in twins studied with18F-dopa and positron emission tomography" 42 : 1894-1900, 1992

      17 "Parkinson disease in twins:an etiologic study" 281 : 341-346, 1999

      18 "Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease" 7 : 1144-1150, 2001

      19 "Parkin localizes to the Lewy bodies of Parkinson disease and dementia with Lewy bodies" 160 : 1655-1667, 2002

      20 "Parkin functions as an E2-dependent ubiquitin-protein ligase and promotes the degradation of the synaptic vesicle-associated protein,CDCrel-1" 97 : 13354-13359, 2000

      21 "Parkin and the molecular pathways of Parkinson's disease" 31 : 885-888, 2001

      22 "Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36" 69 : 629-634, 2001

      23 "Parallel and comparative analysis of the proteome and transcriptome of sorbic acid-stressed Saccharomyces cerevisiae" 18 : 1413-1428, 2001

      24 "Oxidized forms of peroxiredoxins and DJ-1 on two-dimensional gels increased in response to sublethal levels of paraquat" 35 : 301-310, 2001

      25 "Neuropathology of Synuclein Aggregates:New Insights Into Mechanisms of Neurodegenerative Diseases" 61 : 121-127, 2000

      26 "Neuronal alpha-synucleinopathy with severe movement disorder in mice expressing A53T human alpha- synuclein" 34 : 521-533, 2002

      27 "Mutations in the Parkin gene cause autosomal recessive juvenile Parkinsonism" 392 : 605-608, 1998

      28 "Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism" 299 : 256-259, 2003

      29 "Mutation in the alpha-synuclein gene identified in families with Parkinson's disease" 276 : 2045-2047, 1997

      30 "Mitochondrial complex I deficiency in Parkinson's disease" 1 : 1269-, 1989

      31 "Misfolded proteins are competent to mediate a subset of the responses to heat shock in Saccharomyces cerevisiae" 277 : 44817-44825, 2002

      32 "Mice lacking alpha-synuclein display functional deficits in the nigrostriatal dopamine system" 25 : 239-252, 2000

      33 "Measuring the rate of progression and estimating the preclinical period of Parkinson's disease with [18F] dopa PET" 64 : 314-319, 1998

      34 "Mapping of a gene for Parkinson's disease to chromosome 4q21-q23" 274 : 1197-1199, 1996

      35 "Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36(PARK7)in an independent dataset" 51 : 253-256, 2002

      36 "Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2-27" 60 : 588-596, 1997

      37 "Increased risk of Parkinson's disease in parents and siblings of patients" 36 : 659-61, 1994

      38 "Impairment of the Ubiquitin-Proteasome System by Protein Aggregation" 292 : 1552-1555, 2001

      39 "Human γ-synuclein over-expression increases intracellular reactive oxygen species levels and susceptibility to dopamine.Neurosci" 320 : 146-150, 2002

      40 "Human alpha-synuclein-harboring familial Parkinson's disease-linked Ala-53 --> Thr mutation causes neurodegenerative disease with alpha-synuclein aggregation in transgenic mice" 99 : 8968-8973, 2002

      41 "Hereditary Lewy-body parkinsonism and evidence for a genetic etiology of Parkinson's disease" 2 : 309-320, 1992

      42 "Genetics of Parkinson's disease and biochemical studies of implicated gene products" 14 : 653-660, 2002

      43 "Filamentous nerve cell inclusions in neurodegenerative diseases:tauopathies and alpha-synucleinopathies" 354 : 1101-1118, 1999

      44 "Familial aggregation of Parkinson's disease: a population-based case-control study in Europe" 52 : 1876-1882, 1999

      45 "Evidence for a partially folded intermediate in alpha-synuclein fibril formation" 276 : 10737-10744, 2001

      46 "Etiology of Parkinson's disease:genetics and environment revisited" 99 : 13972-13974, 2002

      47 "Environmental, medical, and family history risk factors for Parkinson's disease: a New England-based case control study" 88 : 742-749, 1999

      48 "Dopaminergic loss and inclusion body formation in alpha-synuclein mice:implications for neurodegenerative disorders" 87 : 1265-1269, 2000

      49 "Dopaminergic function in familial Parkinson's disease:a clinical and 18F-dopa positron emission tomography study" 41 : 222-229, 1997

      50 "DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease" 62 : 389-1 94, 2004

      51 "Conformational properties of alpha-synuclein in its free and lipid-associated states" 307 : 1061-1073, 2001

      52 "Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications" 55 : 174-179, 2004

      53 "Chronic systemic pesticide exposure reproduces features of Parkinson's disease" 3 : 1301-1306, 2000

      54 "Chronic systemic pesticide exposure reproduces features of Parkinson's disease" 3 : 1301-1306, 2000

      55 "Axon pathology in Parkinson's disease and Lewy body dementia hippocampus contains a-,b- and g-synuclein" 96 : 13450-13455, 1999

      56 "Association studies of multiple candidate genes for Parkinson's disease using single nucleotide polymorphisms" 51 : 133-136, 2002

      57 "An unfolded putative transmembrane polypeptide,which can lead to endoplasmic reticulum stress,is a substrate of Parkin" 105 : 891-902, 2001

      58 "An Apparently Sporadic Case With Parkin Gene Mutation in a Korean Woman" 58 : 988-989, 2001

      59 "Alzheimer's Disease and Parkinson's Disease" 348 : 1356-1364, 2003

      60 "Alpha-synuclein immunoreactivity is present in axonal swellings in neuroaxonal dystrophy and acute traumatic brain injury" 58 : 1263-1268, 1999

      61 "Ala30Pro mutation in the gene encoding alpha- synuclein in Parkinson's disease" 18 : 106-108, 1998

      62 "A novel transactivation domain in Parkin" 24 : 229-231, 1999

      63 "A Drosophila model of Parkinson's disease" 404 : 394-398, 2000

      64 "14-3-3 proteins in Lewy bodies in Parkinson disease and diffuse Lewy body disease brains" 61 : 245-253, 2002

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      공동연구자 (7)

      유사연구자 (20) 활용도상위20명

      인용정보 인용지수 설명보기

      학술지 이력

      학술지 이력
      연월일 이력구분 이력상세 등재구분
      2026 평가예정 재인증평가 신청대상 (재인증)
      2020-01-01 평가 등재학술지 유지 (재인증) KCI등재
      2017-01-01 평가 등재학술지 유지 (계속평가) KCI등재
      2013-01-01 평가 등재 1차 FAIL (등재유지) KCI등재
      2010-01-01 평가 등재학술지 유지 (등재유지) KCI등재
      2008-01-01 평가 등재학술지 유지 (등재유지) KCI등재
      2006-06-20 학술지명변경 한글명 : Journal of the Korean Neurological Association -> 대한신경과학회지 KCI등재
      2006-01-01 평가 등재학술지 유지 (등재유지) KCI등재
      2003-01-01 평가 등재학술지 선정 (등재후보2차) KCI등재
      2002-01-01 평가 등재후보 1차 PASS (등재후보1차) KCI등재후보
      2000-07-01 평가 등재후보학술지 선정 (신규평가) KCI등재후보
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      학술지 인용정보

      학술지 인용정보
      기준연도 WOS-KCI 통합IF(2년) KCIF(2년) KCIF(3년)
      2016 0.07 0.07 0.07
      KCIF(4년) KCIF(5년) 중심성지수(3년) 즉시성지수
      0.08 0.08 0.245 0.04
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