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An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A
Jason J. Yi
, Janet Berrios
, Jason M. Newbern
, William D. Snider
, Benjamin D. Philpot
, Klaus M. Hahn
, Mark J. Zylka
Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
Institute of Clinical and Translational Sciences (ICTS)
Department of Neuroscience
DBBS - Molecular Cell Biology
DBBS - Neurosciences
DBBS - Biochemistry, Biophysics, and Structural Biology
Intellectual and Developmental Disabilities Research Center (IDDRC)
Hope Center for Neurological Disorders
Research output
:
Contribution to journal
›
Article
›
peer-review
139
Scopus citations
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Keyphrases
Phosphorylation
100%
Autism
100%
UBE3A
100%
Protein Kinase
22%
Patient-derived Cell Line
11%
In Vitro Activity
11%
Genetic Findings
11%
Upstream Regulator
11%
Phosphorylation Sites
11%
Catalytic Domain
11%
Missense mutation
11%
Normal Brain Development
11%
Neurodevelopmental Disorders
11%
Duplication
11%
Angelman Syndrome
11%
Synaptic Dysfunction
11%
Substrate Turnover
11%
Ubiquitin Ligase Activity
11%
Triplication
11%
Dendritic Spine Morphology
11%
Autism Pathogenesis
11%
Neuroscience
Autism
100%
Protein Kinase A
40%
In Vitro
20%
Brain Development
20%
Neurodevelopmental Disorder
20%
Angelman Syndrome
20%
Dendritic Spine
20%
Enzyme Active Site
20%
Missense Mutation
20%
Ubiquitin Protein Ligase
20%
Biochemistry, Genetics and Molecular Biology
UBE3A
100%
Protein Kinase A
22%
Enzyme Active Site
11%
Genetics
11%
Missense Mutation
11%
Brain Development
11%
Dendritic Spine
11%
Angelman Syndrome
11%
Ubiquitin Ligase
11%