P3.149 Rare deletion in the tyrosine hydroxylase gene contributes to Parkinson disease risk
β Scribed by L. Wang; T.L. Edwards; G. Daffu; A. Burt; I. Konidari; W.K. Scott; S. Zuchner; E.R. Martin; J.M. Vance
- Book ID
- 117753916
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 61 KB
- Volume
- 15
- Category
- Article
- ISSN
- 1353-8020
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Tyrosine hydroxylase (TH) enzyme is a rate limiting enzyme in dopamine biosynthesis. Missense mutation in both alleles of the __TH__ gene is known to cause dopamine-related phenotypes, including dystonia and infantile Parkinsonism. However, it is not clear if single allele mutation in __TH__ modifie
## Communicated by Michael Dean In one genetic study, the high temperature requirement A2 (HTRA2) mitochondrial protein has been associated with increased risk for sporadic Parkinson disease (PD). One missense mutation, p.Gly399Ser, in its C-terminal PDZ domain (from the initial letters of the pos