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DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism

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Abstract.

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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Bonifati, V., Rizzu, P., Squitieri, F. et al. DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism. Neurol Sci 24, 159–160 (2003). https://doi.org/10.1007/s10072-003-0108-0

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  • DOI: https://doi.org/10.1007/s10072-003-0108-0

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