Article
A Nurr1 point mutant, implicated in Parkinson's disease, uncouples ERK1/2-dependent regulation of tyrosine hydroxylase transcription.
Neurobiology of disease - 1 Jan 2008
Jacobsen Kirsten X, MacDonald Heather, Lemonde Sylvie, Daigle Mireille, Grimes David A, Bulman Dennis E, Albert Paul R
Abstract excerpt
The orphan nuclear receptor NURR1 is critical for the development of mesencephalic dopamine neurons and directly regulates tyrosine hydroxylase (TH) via specific NGFI-B response elements (NBRE). We identified a Parkinson's disease patient with a NURR1 mutation, resulting in a p.Ser125Cys change, immediately adjacent to the putative ERK1/2 phosphorylation site. Here we show, in dopaminergic SK-N-AS human...
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