Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers

GTP cyclohydrolase 1, encoded by the GCH1 gene, is an essential enzyme for dopamine production in nigrostriatal cells. Loss-of-function mutations in GCH1 result in severe reduction of dopamine synthesis in nigrostriatal cells and are the most common cause of DOPA-responsive dystonia, a rare disease...

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Hlavní autoři: Mencacci, Niccolò E., Isaias, Ioannis U., Reich, Martin M., Ganos, Christos, Plagnol, Vincent, Polke, James M., Bras, Jose, Hersheson, Joshua, Stamelou, Maria, Pittman, Alan M., Noyce, Alastair J., Mok, Kin Y., Opladen, Thomas, Kunstmann, Erdmute, Hodecker, Sybille, Münchau, Alexander, Volkmann, Jens, Samnick, Samuel, Sidle, Katie, Nanji, Tina, Sweeney, Mary G., Houlden, Henry, Batla, Amit, Zecchinelli, Anna L., Pezzoli, Gianni, Marotta, Giorgio, Lees, Andrew, Alegria, Paulo, Krack, Paul, Cormier-Dequaire, Florence, Lesage, Suzanne, Brice, Alexis, Heutink, Peter, Gasser, Thomas, Lubbe, Steven J., Morris, Huw R., Taba, Pille, Koks, Sulev, Majounie, Elisa, Raphael Gibbs, J., Singleton, Andrew, Hardy, John, Klebe, Stephan, Bhatia, Kailash P., Wood, Nicholas W.
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2014
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Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4132650/
https://ncbi.nlm.nih.gov/pubmed/24993959
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awu179
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