Article
Parkinson's disease mutations in PINK1 result in decreased Complex I activity and deficient synaptic function.
EMBO molecular medicine - 1 May 2009
Morais Vanessa A, Verstreken Patrik, Roethig Anne, Smet Joél, Snellinx An, Vanbrabant Mieke, Haddad Dominik, Frezza Christian, Mandemakers Wim, Vogt-Weisenhorn Daniela, Van Coster Rudy, Wurst Wolfgang, Scorrano Luca, De Strooper Bart
Abstract excerpt
Mutations of the mitochondrial PTEN (phosphatase and tensin homologue)-induced kinase1 (PINK1) are important causes of recessive Parkinson disease (PD). Studies on loss of function and overexpression implicate PINK1 in apoptosis, abnormal mitochondrial morphology, impaired dopamine release and motor deficits. However, the fundamental mechanism underlying these various phenotypes remains to be clarified. Using...
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