Article
Hereditary early-onset Parkinson's disease caused by mutations in PINK1.
Science (New York, N.Y.) - 21 May 2004
Valente Enza Maria, Abou-Sleiman Patrick M, Caputo Viviana, Muqit Miratul M K, Harvey Kirsten, Gispert Suzana, Ali Zeeshan, Del Turco Domenico, Bentivoglio Anna Rita, Healy Daniel G, Albanese Alberto, Nussbaum Robert, González-Maldonado Rafael, Deller Thomas, Salvi Sergio, Cortelli Pietro, Gilks William P, Latchman David S, Harvey Robert J, Dallapiccola Bruno, Auburger Georg, Wood Nicholas W
Abstract excerpt
Parkinson's disease (PD) is a neurodegenerative disorder characterized by degeneration of dopaminergic neurons in the substantia nigra. We previously mapped a locus for a rare familial form of PD to chromosome 1p36 (PARK6). Here we show that mutations in PINK1 (PTEN-induced kinase 1) are associated with PARK6. We have identified two homozygous mutations affecting the PINK1 kinase domain in three consanguineous...
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