An Angelman syndrome substitution in the HECT E3 ubiquitin ligase C-terminal Lobe of E6AP affects protein stability and activity

Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by speech impairment, intellectual disability, ataxia, and epilepsy. AS is caused by mutations in the maternal copy of UBE3A located on chromosome 15q11-13. UBE3A codes for E6AP (E6 Associated Protein), a prominent member of...

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Detalles Bibliográficos
Autores principales: Beasley, Steven A., Kellum, Chloe E., Orlomoski, Rachel J., Idrizi, Feston, Spratt, Donald E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7343168/
https://www.ncbi.nlm.nih.gov/pubmed/32639967
http://dx.doi.org/10.1371/journal.pone.0235925

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7343168/
https://www.ncbi.nlm.nih.gov/pubmed/32639967
http://dx.doi.org/10.1371/journal.pone.0235925

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