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Parkin and Parkinson's: More than homonymy?

✍ Scribed by Olga Corti; Alexis Brice


Book ID
101462423
Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
106 KB
Volume
50
Category
Article
ISSN
0364-5134

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Parkin mutations and susceptibility alle
✍ Sofia A. Oliveira; William K. Scott; Eden R. Martin; Martha A. Nance; Ray L. Wat πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 88 KB πŸ‘ 2 views

## Abstract Parkin, an E2‐dependent ubiquitin protein ligase, carries pathogenic mutations in patients with autosomal recessive juvenile parkinsonism, but its role in the late‐onset form of Parkinson's disease (PD) is not firmly established. Previously, we detected linkage of idiopathic PD to the r

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## Abstract We report on an evaluation of coding variants within the parkin gene to assess their frequency in a North American clinical series of 313 Parkinson's disease (PD) cases and 192 unrelated controls. We hypothesized that the carrier frequency of parkin coding mutations, exon deletions, or

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## Abstract Mutations in parkin are the second most common known cause of Parkinson's disease (PD). Parkin is an ubiquitin E3 ligase that monoubiquitinates and polyubiquitinates proteins to regulate a variety of cellular processes. Loss of parkin's E3 ligase activity is thought to play a pathogenic