Source:http://linkedlifedata.com/resource/pubmed/id/14598065
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
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pubmed:dateCreated |
2003-11-4
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pubmed:abstractText |
Four chromosomal loci ( PARK2, PARK6, PARK7, and PARK9) associated with autosomal recessive, early onset parkinsonism are known. We mapped the PARK7 locus to chromosome 1p36 in a large family from a genetically isolated population in the Netherlands, and confirmed this linkage in an Italian family. By positional cloning within the refined PARK7 critical region we recently identified mutations in the DJ-1 gene in the two PARK7-linked families. The function of DJ-1 remains largely unknown, but evidence from genetic studies on the yeast DJ-1 homologue, and biochemical studies in murine and human cell lines, suggests a role for DJ-1 as an antioxidant and/or a molecular chaperone. Elucidating the role of DJ-1 will lead to a better understanding of the pathogenesis of DJ-1-related and common forms of Parkinson's disease.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
1590-1874
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
24
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
159-60
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:14598065-Chromosomes, Human, Pair 1,
pubmed-meshheading:14598065-DNA Mutational Analysis,
pubmed-meshheading:14598065-Family Health,
pubmed-meshheading:14598065-Humans,
pubmed-meshheading:14598065-Intracellular Signaling Peptides and Proteins,
pubmed-meshheading:14598065-Mutation,
pubmed-meshheading:14598065-Oncogene Proteins,
pubmed-meshheading:14598065-Parkinsonian Disorders
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pubmed:year |
2003
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pubmed:articleTitle |
DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism.
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pubmed:affiliation |
Department of Clinical Genetics, Erasmus Medical Center Rotterdam, 1738 DR Rotterdam, The Netherlands.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
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