Article
Loss-of-function of human PINK1 results in mitochondrial pathology and can be rescued by parkin.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 7 Nov 2007
Exner Nicole, Treske Bettina, Paquet Dominik, Holmström Kira, Schiesling Carola, Gispert Suzana, Carballo-Carbajal Iria, Berg Daniela, Hoepken Hans-Hermann, Gasser Thomas, Krüger Rejko, Winklhofer Konstanze F, Vogel Frank, Reichert Andreas S, Auburger Georg, Kahle Philipp J, Schmid Bettina, Haass Christian
Abstract excerpt
Degeneration of dopaminergic neurons in the substantia nigra is characteristic for Parkinson's disease (PD), the second most common neurodegenerative disorder. Mitochondrial dysfunction is believed to contribute to the etiology of PD. Although most cases are sporadic, recent evidence points to a number of genes involved in familial variants of PD. Among them, a loss-of-function of phosphatase and tensin...
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