Electronic Resource
Palo Alto, Calif.
:
Annual Reviews
Annual Review of Biochemistry
74 (2005), S. 29-52
ISSN:
0066-4154
Source:
Annual Reviews Electronic Back Volume Collection 1932-2001ff
Topics:
Chemistry and Pharmacology
,
Biology
Notes:
Several genes have been identified for monogenic disorders that variably resemble Parkinson's disease. Dominant mutations in the gene encoding ʼ̛-synuclein enhance the propensity of this protein to aggregate. As a consequence, these patients have a widespread disease with protein inclusion bodies in several brain areas. In contrast, mutations in several recessive genes (parkin, DJ-1, and PINK1) produce neuronal cell loss but generally without protein aggregation pathology. Progress has been made in understanding some of the mechanisms of toxicity: Parkin is an E3 ubiquitin ligase and DJ-1 and PINK1 appear to protect against mitochondrial damage. However, we have not yet fully resolved how the recessive genes relate to ʼ̛-synuclein, or whether they represent different ways to induce a similar phenotype.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1146/annurev.biochem.74.082803.133400
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