Article
Dissecting the role of the mitochondrial chaperone mortalin in Parkinson's disease: functional impact of disease-related variants on mitochondrial homeostasis.
Human molecular genetics - 15 Nov 2010
Burbulla Lena F, Schelling Carina, Kato Hiroki, Rapaport Doron, Woitalla Dirk, Schiesling Carola, Schulte Claudia, Sharma Manu, Illig Thomas, Bauer Peter, Jung Stephan, Nordheim Alfred, Schöls Ludger, Riess Olaf, Krüger Rejko
Abstract excerpt
The mitochondrial chaperone mortalin has been linked to neurodegeneration in Parkinson's disease (PD) based on reduced protein levels in affected brain regions of PD patients and its interaction with the PD-associated protein DJ-1. Recently, two amino acid exchanges in the ATPase domain (R126W) a...
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