A molecular explanation for the recessive nature of parkin-linked Parkinson’s disease

@inproceedings{Spratt2013AME,
  title={A molecular explanation for the recessive nature of parkin-linked Parkinson’s disease},
  author={Donald E Spratt and R Julio Martinez-Torres and Yeong J. Noh and Pascal Mercier and Noah Manczyk and Kathryn R. Barber and Jacob D. Aguirre and Lynn Burchell and Andrew G. Purkiss and Helen Walden and Gary S. Shaw},
  booktitle={Nature communications},
  year={2013}
}
Mutations in the park2 gene, encoding the RING-inBetweenRING-RING E3 ubiquitin ligase parkin, cause 50% of autosomal recessive juvenile Parkinsonism cases. More than 70 known pathogenic mutations occur throughout parkin, many of which cluster in the inhibitory amino-terminal ubiquitin-like domain, and the carboxy-terminal RING2 domain that is indispensable for ubiquitin transfer. A structural rationale showing how autosomal recessive juvenile Parkinsonism mutations alter parkin function is… CONTINUE READING
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