Abstract
Angelman syndrome (AS) is a severe neurological disorder characterized by mental retardation, motor dysfunction and epilepsy. We show that the molecular and cellular deficits of an AS mouse model can be rescued by introducing an additional mutation at the inhibitory phosphorylation site of alphaCaMKII. Moreover, these double mutants no longer show the behavioral deficits seen in AS mice, suggesting that these deficits are the direct result of increased inhibitory phosphorylation of alphaCaMKII.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Angelman Syndrome / complications*
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Angelman Syndrome / genetics
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Angelman Syndrome / pathology
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Animals
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Behavior, Animal
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Calcium-Calmodulin-Dependent Protein Kinase Type 2 / genetics
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Calcium-Calmodulin-Dependent Protein Kinase Type 2 / metabolism*
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Conditioning, Classical / physiology
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Disease Models, Animal
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Excitatory Postsynaptic Potentials / genetics
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Female
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Freezing Reaction, Cataleptic / physiology
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Hippocampus / physiopathology
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In Vitro Techniques
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Male
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Maze Learning / physiology
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Mental Disorders / etiology*
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Mental Disorders / genetics
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Mental Disorders / pathology
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Mental Disorders / therapy*
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Mice
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Mice, Inbred C57BL
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Mice, Neurologic Mutants
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Motor Activity / physiology
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Phosphorylation
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Phosphotransferases / metabolism
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Reaction Time
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Time Factors
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Ubiquitin-Protein Ligases / genetics
Substances
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Ube3a protein, mouse
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Ubiquitin-Protein Ligases
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Phosphotransferases
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Calcium-Calmodulin-Dependent Protein Kinase Type 2