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A novel missense mutant inactivates GTP cyclohydrolase I in dopa-responsive dystonia

โœ Scribed by Makito Hirano; Osamu Komure; Satoshi Ueno


Book ID
117477359
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
171 KB
Volume
260
Category
Article
ISSN
0304-3940

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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