Article
The PINK1 p.I368N mutation affects protein stability and ubiquitin kinase activity.
Molecular neurodegeneration - 24 Apr 2017
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
Abstract excerpt
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, damaged mitochondria are identified and targeted to degradation in order to prevent their accumulation and eventually...
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