Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease.

doi:10.1016/j.neurobiolaging.2011.05.024

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Article

Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease.

Neurobiology of aging - 1 Nov 2011

Sharma Manu, Maraganore Demetrius M, Ioannidis John P A, Riess Olaf, Aasly Jan O, Annesi Grazia, Abahuni Nadine, Bentivoglio Anna Rita, Brice Alexis, Van Broeckhoven Christine, Chartier-Harlin Marie-Christine, Destée Alain, Djarmati Ana, Elbaz Alexis, Farrer Matthew, Ferrarese Carlo, Gibson J Mark, Gispert Suzana, Hattori Nobutaka, Jasinska-Myga Barbara, Klein Christine, Lesage Suzanne, Lynch Timothy, Lichtner Peter, Lambert Jean-Charles, Lang Anthony E, Mellick George D, De Nigris Francesa, Opala Grzegorz, Quattrone Aldo, Riva Chiara, Rogaeva Ekaterina, Ross Owen A, Satake Wataru, Silburn Peter A, Theuns Jessie, Toda Tatsushi, Tomiyama Hiroyuki, Uitti Ryan J, Wirdefeldt Karin, Wszolek Zbigniew, Gasser Thomas, Krüger Rejko

Abstract excerpt

Sepiapterin reductase (SPR) gene is an enzyme which catalyses the final step of tetrahydrobiopterin synthesis (BH4) and was implicated in Parkinson's disease (PD) pathogenesis as a candidate gene for PARK3 locus. A number of studies yielded association of the PARK3 locus with PD, and SPR knockout mice were shown to display parkinsonian features. To evaluate the role of SPR gene polymorphisms in diverse...

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PMID: 21782285
DOI: 10.1016/j.neurobiolaging.2011.05.024

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