Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin

Mutations in the PARKIN/PARK2 gene that result in loss-of-function of the encoded, neuroprotective E3 ubiquitin ligase Parkin cause recessive, familial early-onset Parkinson disease. As an increasing number of rare Parkin sequence variants with unclear pathogenicity are identified, structure-functio...

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Pubblicato in:Hum Mutat
Autori principali: Fiesel, Fabienne C., Caulfield, Thomas R., Moussaud-Lamodière, Elisabeth L., Ogaki, Kotaro, Dourado, Daniel F.A.R., Flores, Samuel C., Ross, Owen A., Springer, Wolfdieter
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2015
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4514554/
https://ncbi.nlm.nih.gov/pubmed/25939424
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22808
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