Title |
DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism
|
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Published in |
Neurological Sciences, October 2003
|
DOI | 10.1007/s10072-003-0108-0 |
Pubmed ID | |
Authors |
V. Bonifati, P. Rizzu, F. Squitieri, E. Krieger, N. Vanacore, J. C. van Swieten, A. Brice, C. M. van Duijn, B. Oostra, G. Meco, P. Heutink |
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. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 2 | <1% |
United States | 1 | <1% |
Unknown | 213 | 99% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 51 | 24% |
Student > Bachelor | 34 | 16% |
Student > Master | 28 | 13% |
Researcher | 23 | 11% |
Student > Doctoral Student | 11 | 5% |
Other | 18 | 8% |
Unknown | 51 | 24% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 53 | 25% |
Biochemistry, Genetics and Molecular Biology | 36 | 17% |
Neuroscience | 25 | 12% |
Medicine and Dentistry | 15 | 7% |
Pharmacology, Toxicology and Pharmaceutical Science | 8 | 4% |
Other | 22 | 10% |
Unknown | 57 | 26% |