𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Dopa-responsive dystonia: A clinical and molecular genetic study

✍ Scribed by O. Bandmann; E. M. Valente; P. Holmans; R. A. H. Surtees; J. H. Walters; R. A. Wevers; C. D. Marsden; Dr. N. W. Wood

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
790 KB
Volume
44
Category
Article
ISSN
0364-5134

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

GCH1 mutation and clinical study of Chin
GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia
✍ Xin Liu; Shu-Shan Zhang; Deng-Fu Fang; Ming-Yi Ma; Xiao-Yan Guo; Yuan Yang; Hui- πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 441 KB

## Abstract Dopa‐responsive dystonia (DRD) is typically caused by heterozygous mutations in GTP cyclohydrolase 1 gene (__GCH1__). Our aim was to investigate the clinical and genetic features of Chinese DRD patients. We analyzed a cohort of Chinese DRD patients' clinical data. Mutation of the __GCH1

Molecular chaperones affect GTP cyclohyd
Molecular chaperones affect GTP cyclohydrolase I mutations in dopa-responsive dystonia
✍ Wuh-Liang Hwu; Mei-Yi Lu; Kuo-Yuan Hwa; Shu-Wen Fan; Yu-May Lee πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 154 KB

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