An Angelman syndrome substitution in the HECT E3 ubiquitin ligase C-terminal Lobe of E6AP affects protein stability and activity-Reference-Cited by-同舟云学术

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

Published:2020-07-08 Issue:7 Volume:15 Page:e0235925
ISSN:1932-6203
Container-title:PLOS ONE
language:en
Short-container-title:PLoS ONE

Author:

Beasley Steven A.,Kellum Chloe E.,Orlomoski Rachel J.,Idrizi Feston,Spratt Donald E.^ORCID

Funder

National Institute of General Medical Sciences

Clark University

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference64 articles.

1. Angelman syndrome 2005: updated consensus for diagnostic criteria;CA Williams;Am J Med Genet A,2006

2. Angelman Syndrome

3. UBE3A/E6-AP mutations cause Angelman syndrome;T Kishino;Nat Genet,1997

4. Angelman syndrome: review of clinical and molecular aspects;LM Bird;Appl Clin Genet,2014

5. Genomic imprinting: parental influence on the genome;W Reik;Nat Rev Genet,2001

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Stem cell models of Angelman syndrome;Frontiers in Cell and Developmental Biology;2023-10-19

2. Redefining the catalytic HECT domain boundaries for the HECT E3 ubiquitin ligase family;Bioscience Reports;2022-10

3. Epigenetic Regulation Disturbances on Gene Expression in Imprinting Diseases;Molecular Biology;2022-01

4. Molecular Evolution, Neurodevelopmental Roles and Clinical Significance of HECT-Type UBE3 E3 Ubiquitin Ligases;Cells;2020-11-10

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