Common and rare GCH1 variants are associated with Parkinson disease

GCH1 encodes the enzyme GTP cyclohydrolase 1, essential for dopamine synthesis in nigrostriatal cells, and rare mutations in GCH1 may lead to Dopa-responsive dystonia (DRD). While GCH1 is implicated in genome-wide association studies in Parkinson disease (PD), only a few studies examined the role of...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Neurobiol Aging
Prif Awduron: Rudakou, Uladzislau, Amar Bencheikh, Bouchra Ouled, Ruskey, Jennifer A., Krohn, Lynne, Laurent, Sandra B., Spiegelman, Dan, Liong, Christopher, Fahn, Stanley, Waters, Cheryl, Monchi, Oury, Fon, Edward A., Dauvilliers, Yves, Alcalay, Roy N., Dupré, Nicolas, Gan-Or, Ziv
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2018
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6251729/
https://ncbi.nlm.nih.gov/pubmed/30314816
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2018.09.008
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