Dissecting the role of the mitochondrial chaperone mortalin in Parkinson's disease: functional impact of disease-related variants on mitochondrial homeostasis.

@article{Burbulla2010DissectingTR,
  title={Dissecting the role of the mitochondrial chaperone mortalin in Parkinson's disease: functional impact of disease-related variants on mitochondrial homeostasis.},
  author={Lena F Burbulla and Carina Schelling and Hiroki Kato and Doron Rapaport and Dirk Woitalla and Carola Schiesling and Claudia Schulte and Manu Sharma and Thomas Illig and Peter Bauer and Stephan Jung and A. Nordheim and Ludger Sch{\"o}ls and Olaf Riess and Rejko Krueger},
  journal={Human molecular genetics},
  year={2010},
  volume={19 22},
  pages={4437-52}
}
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) and the substrate-binding domain (P509S) of mortalin were identified in Spanish PD patients. Here, we identified a separate and novel variant (A476T) in the substrate-binding domain of mortalin in German… CONTINUE READING
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