Molecular Genetics of Hereditary Dystonia—Mutations in the GTP Cyclohydrolase I Gene
✍ Scribed by Hiroshi Ichinose; Toshiharu Nagatsu
- Book ID
- 117502426
- Publisher
- Elsevier Science
- Year
- 1997
- Tongue
- English
- Weight
- 118 KB
- Volume
- 43
- Category
- Article
- ISSN
- 0361-9230
No coin nor oath required. For personal study only.
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Unstable GTP cyclohydrolase I (GCH) mutations in dopa-responsive dystonia (DRD) can exert a dominant-negative effect in the HeLa cell model, but in a batch of cells this effect could not be shown. Through differential display, we found a higher Hsc70 expression in the non-dominant-negative cells. We
Hereditary progressive dystonia (HPD) is caused by the mutant gene encoding GTP cyclohydrolase I (GCH). The clinical presentation of this disease varies considerably, and many cases appear to be sporadic. We have previously proposed that this clinical variation may be due to digetential expression o