Article
Differential effects of PINK1 nonsense and missense mutations on mitochondrial function and morphology.
Experimental neurology - 1 Sept 2009
Grünewald A, Gegg M E, Taanman J-W, King R H, Kock N, Klein C, Schapira A H V
Abstract excerpt
Mutations of the PINK1 gene are a cause of autosomal recessive Parkinson's disease (PD). PINK1 encodes a mitochondrial kinase of unknown function which is widely expressed in both neuronal and non-neuronal cells. We have studied fibroblast cultures from four family members harbouring the homozygous p.Q456X mutation in PINK1, three of their wild-type relatives, one individual with the homozygous p.V170G mutation...
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