2003-10-01
DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism
Publication
Publication
Neurological Sciences , Volume 24 - Issue 3 p. 159- 160
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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| , , , , , , , , , , , , , , , | |
| doi.org/10.1007/s10072-003-0108-0, hdl.handle.net/1765/5904 | |
| Neurological Sciences | |
| Organisation | Erasmus MC: University Medical Center Rotterdam |
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Bonifati, V., Squitieri, F., Krieger, E., Vanacore, N., van Swieten, J., Brice, A., … Rizzu, P. (2003). DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism. Neurological Sciences, 24(3), 159–160. doi:10.1007/s10072-003-0108-0 |
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