alexa Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism.
Neurology

Neurology

Journal of Alzheimers Disease & Parkinsonism

Author(s): Silvestri L, Caputo V, Bellacchio E, Atorino L, Dallapiccola B,

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Abstract Parkinson's disease (PD) is a progressive neurodegenerative illness associated with a selective loss of dopaminergic neurons in the nigrostriatal pathway of the brain. Despite the overall rarity of the familial forms of PD, the identification of single genes linked to the disease has yielded crucial insights into possible mechanisms of neurodegeneration. Recently, a putative mitochondrial kinase, PINK1, has been found mutated in an inherited form of parkinsonism. Here, we describe that PINK1 mutations confer different autophosphorylation activity, which is regulated by the C-terminal portion of the protein. We also demonstrate the mitochondrial localization of both wild-type and mutant PINK1 proteins unequivocally and prove that a short N-terminal part of PINK1 is sufficient for its mitochondrial targeting. This article was published in Hum Mol Genet and referenced in Journal of Alzheimers Disease & Parkinsonism

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