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A molecular explanation for the recessive nature of parkin-linked Parkinson’s disease
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, a...
Autores principales: | Spratt, Donald E., Julio Martinez-Torres, R, Noh, Yeong J., Mercier, Pascal, Manczyk, Noah, Barber, Kathryn R., Aguirre, Jacob D., Burchell, Lynn, Purkiss, Andrew, Walden, Helen, Shaw, Gary S. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Pub. Group
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3709501/ https://www.ncbi.nlm.nih.gov/pubmed/23770917 http://dx.doi.org/10.1038/ncomms2983 |
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