Cargando…

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...

Descripción completa

Detalles Bibliográficos
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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Pub. Group 2013
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