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Parkinson's Disease DJ-1 L166P Alters rRNA Biogenesis by Exclusion of TTRAP from the Nucleolus and Sequestration into Cytoplasmic Aggregates via TRAF6
Mutations in PARK7/DJ-1 gene are associated to autosomal recessive early onset forms of Parkinson's disease (PD). Although large gene deletions have been linked to a loss-of-function phenotype, the pathogenic mechanism of missense mutations is less clear. The L166P mutation causes misfolding of...
Autores principales: | Vilotti, Sandra, Codrich, Marta, Dal Ferro, Marco, Pinto, Milena, Ferrer, Isidro, Collavin, Licio, Gustincich, Stefano, Zucchelli, Silvia |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3332112/ https://www.ncbi.nlm.nih.gov/pubmed/22532838 http://dx.doi.org/10.1371/journal.pone.0035051 |
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