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Angelman syndrome-associated ubiquitin ligase UBE3A/E6AP mutants interfere with the proteolytic activity of the proteasome

Angelman syndrome, a severe neurodevelopmental disease, occurs primarily due to genetic defects, which cause lack of expression or mutations in the wild-type E6AP/UBE3A protein. A proportion of the Angelman syndrome patients bear UBE3A point mutations, which do not interfere with the expression of t...

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Publicat a:Cell Death Dis
Autors principals: Tomaić, V, Banks, L
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2015
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4669770/
https://ncbi.nlm.nih.gov/pubmed/25633294
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/cddis.2014.572
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