Mutant genes responsible for Parkinson's disease.
Recent progress has documented the presence of at least 10 disease-related genes or loci linked to Parkinson's disease. Analysis of the genotypes and phenotypes of these mutant genes has revealed a broad spectrum of clinical and pathological presentations, many of which share a common feature of alteration in the ubiquitin proteasome system. Further understanding of the pathogenesis of these inherited cases of Parkinson's disease and development of transgenic animal models bearing these mutations should provide novel insight into the causes of nigral cell death and meaningful strategies for future therapy.
Le
Weidong
W
Department of Neurology, Baylor College of Medicine, Houston, Texas, USA.
Appel
Stanley H
SH
D000818:Animals; D004195:Disease Models, Animal; D005544:Forecasting; D006801:Humans; D008957:Models, Genetic; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D043222:Ubiquitin Thiolesterase / Q000235:genetics / Q000378:metabolism
D043222:Ubiquitin Thiolesterase