Article
Assessing the prevalence of PINK1 genetic variants in South African patients diagnosed with early- and late-onset Parkinson's disease.
Biochemical and biophysical research communications - 16 Jul 2010
Keyser Rowena J, Lesage Suzanne, Brice Alexis, Carr Jonathan, Bardien Soraya
Abstract excerpt
Mutations in the PINK1 gene are the second most common cause after parkin of autosomal recessive early-onset Parkinson's disease (PD). PINK1 is a protein kinase that is localized to the mitochondrion and is ubiquitously expressed in the human brain. Recent studies aimed at elucidating the function of PINK1, have found that it has neuroprotective properties against mitochondrial dysfunction and...
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