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Identification and characterization of a novel endogenous murine parkin mutation.

J Neurochem.. 2010-04;  113(2):402-17
Chenere P. Ramsey, Benoit I. Giasson. Department of Pharmacology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
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摘要

Various mutations in the PARK2 gene which encodes the protein, parkin, are causal of a disease entity-termed autosomal recessive juvenile parkinsonism. Parkin can function as an E3 ubiquitin-protein ligase, mediating the ubiquitination of specific targeted proteins and resulting in proteasomal degradation. Parkin is thought to lead to parkinsonism as a consequence of a loss in its function. In this study, immunoblot analyses of brain extracts from Balb/c, C57BL/6, C3H, and 129S mouse strains demonstrated significant variations in immunoreactivity with anti-parkin monoclonal antibodies (PRK8, PRK28, and PRK109). This resulted partly from differences in the steady-state levels of parkin protein across mouse strai... More

关键词

C3H mouse; E3 ligase; mutation; parkin; Parkinson’ s disease; recessive