Extended mutation analysis and association studies of Nurr1 ( NR4A2 ) in Parkinson disease
- 13 April 2004
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 62 (7) , 1231-1232
- https://doi.org/10.1212/01.wnl.0000118285.18383.90
Abstract
The transcription factor Nurr1 is highly expressed in dopaminergic cells of the substantia nigra. Deficiency of Nurr1 in mice leads to a lack of dopaminergic neurons.4 Based on these data, we explored the 7048G7049 polymorphism in intron 6 as well as two novel sequence variations, −291Tdel and −245T→G, in exon 1 of Nurr1 in a large cohort of PD patients.Keywords
This publication has 6 references indexed in Scilit:
- A Common NURR1 Polymorphism Associated With Parkinson Disease and Diffuse Lewy Body DiseaseArchives of Neurology, 2003
- Mutations in NR4A2 associated with familial Parkinson diseaseNature Genetics, 2002
- Association of homozygous 7048G7049 variant in the intron six of Nurr1 gene with Parkinson’s diseaseNeurology, 2002
- NURR1 Mutations in cases of schizophrenia and manic-depressive disorderAmerican Journal of Medical Genetics, 2000
- A Single Question about Prior Stroke versus a Stroke Questionnaire to Assess Stroke Prevalence in PopulationsNeuroepidemiology, 2000
- Dopamine Neuron Agenesis in Nurr1-Deficient MiceScience, 1997