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The PINK1 p.I368N mutation affects protein stability and ubiquitin kinase activity
BACKGROUND: Mutations in PINK1 and PARKIN are the most common causes of recessive early-onset Parkinson’s disease (EOPD). Together, the mitochondrial ubiquitin (Ub) kinase PINK1 and the cytosolic E3 Ub ligase PARKIN direct a complex regulated, sequential mitochondrial quality control. Thereby, damag...
Autores principales: | Ando, Maya, Fiesel, Fabienne C., Hudec, Roman, Caulfield, Thomas R., Ogaki, Kotaro, Górka-Skoczylas, Paulina, Koziorowski, Dariusz, Friedman, Andrzej, Chen, Li, Dawson, Valina L., Dawson, Ted M., Bu, Guojun, Ross, Owen A., Wszolek, Zbigniew K., Springer, Wolfdieter |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5404317/ https://www.ncbi.nlm.nih.gov/pubmed/28438176 http://dx.doi.org/10.1186/s13024-017-0174-z |
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