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

Laura Silvestri, Viviana Caputo, Emanuele Bellacchio, Luigia Atorino, Bruno Dallapiccola, Enza Maria Valente, Giorgio Casari

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)3477-3492
Number of pages16
JournalHuman Molecular Genetics
Volume14
Issue number22
DOIs
Publication statusPublished - Nov 15 2005

ASJC Scopus subject areas

  • Genetics

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