Title |
Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: a case control study
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Published in |
BMC Medical Genomics, March 2012
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DOI | 10.1186/1471-2350-13-16 |
Pubmed ID | |
Authors |
Lisa F Potts, Alex C Cambon, Owen A Ross, Rosa Rademakers, Dennis W Dickson, Ryan J Uitti, Zbigniew K Wszolek, Shesh N Rai, Matthew J Farrer, David W Hein, Irene Litvan |
Abstract |
There are no known causes for progressive supranuclear palsy (PSP). The microtubule associated protein tau (MAPT) H1 haplotype is the major genetic factor associated with risk of PSP, with both oxidative stress and mitochondrial dysfunction also implicated. We investigated whether specific single nucleotide polymorphisms (SNPs) in genes encoding enzymes of xenobiotic detoxification, mitochondrial functioning, or oxidative stress response, including debrisoquine 4-hydroxylase, paraoxonase 1 and 2, N-acetyltransferase 1 and 2 (NAT2), superoxide dismutase 1 and 2, and PTEN-induced putative kinase are associated with PSP. |
X Demographics
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Austria | 1 | 33% |
Unknown | 2 | 67% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 3 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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United Kingdom | 1 | 3% |
Chile | 1 | 3% |
United States | 1 | 3% |
Unknown | 33 | 92% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Bachelor | 6 | 17% |
Professor > Associate Professor | 4 | 11% |
Other | 3 | 8% |
Professor | 3 | 8% |
Student > Ph. D. Student | 3 | 8% |
Other | 10 | 28% |
Unknown | 7 | 19% |
Readers by discipline | Count | As % |
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Neuroscience | 7 | 19% |
Agricultural and Biological Sciences | 4 | 11% |
Psychology | 2 | 6% |
Arts and Humanities | 1 | 3% |
Other | 1 | 3% |
Unknown | 12 | 33% |