A molecular explanation for the recessive nature of parkin-linked Parkinson’s disease
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چکیده
منابع مشابه
A molecular explanation for the recessive nature of parkin-linked Parkinson’s disease
Mutations in the park2 gene, encoding the RING-inBetweenRING-RING E3 ubiquitin ligase parkin, cause 50% of autosomal recessive juvenile Parkinsonism cases. More than 70 known pathogenic mutations occur throughout parkin, many of which cluster in the inhibitory amino-terminal ubiquitin-like domain, and the carboxy-terminal RING2 domain that is indispensable for ubiquitin transfer. A structural r...
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Parkin and the Molecular Pathways of Parkinson's Disease
Parkinson's disease (PD) is a neurodegenerative disease characterized by the selective demise of specific neuronal populations leading to impairment of motor functions. Recent genetic studies have uncovered several genes involved in inherited forms of the disease. These gene products are implicated in the biochemical pathways underlying the etiology of sporadic PD. Mutations in the parkin gene ...
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ژورنال
عنوان ژورنال: Nature Communications
سال: 2013
ISSN: 2041-1723
DOI: 10.1038/ncomms2983