Article
Characterisation of a novel NR4A2 mutation in Parkinson's disease brain.
Neuroscience letters - 26 Jun 2009
Sleiman P M A, Healy D G, Muqit M M K, Yang Y X, Van Der Brug M, Holton J L, Revesz T, Quinn N P, Bhatia K, Diss J K J, Lees A J, Cookson M R, Latchman D S, Wood N W
Abstract excerpt
OBJECTIVE: We performed a mutation screen of NR4A2 (also known as NURR1) in 409 Parkinson's disease (PD) patients. We identified a novel single base substitution in the 5'UTR of the NR4A2 (also known as NURR1) gene (c.-309C>T). RESULTS: We have performed expression studies in neuronal cell lines showing that the c.-309C>T mutation reduces NR4A2 mRNA expression in vitro. We have confirmed this finding in vivo by...
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