Adeno-associated virus-mediated rescue of the cognitive defects in a mouse model for Angelman syndrome

Angelman syndrome (AS), a genetic disorder occurring in approximately one in every 15,000 births, is characterized by severe mental retardation, seizures, difficulty speaking and ataxia. The gene responsible for AS was discovered to be UBE3A and encodes for E6-AP, an ubiquitin ligase. A unique featu...

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Veröffentlicht in:	PloS one 2011-12, Vol.6 (12), p.e27221
Hauptverfasser:	Daily, Jennifer L, Nash, Kevin, Jinwal, Umesh, Golde, Todd, Rogers, Justin, Peters, Melinda M, Burdine, Rebecca D, Dickey, Chad, Banko, Jessica L, Weeber, Edwin J
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities Angelman Syndrome - complications Angelman Syndrome - physiopathology Animals Anxiety - physiopathology Association Learning - physiology Associative learning Ataxia Biology Brain Brain research Ca2+/calmodulin-dependent protein kinase II Calcium Calcium-binding protein Calmodulin Chromosomes Clinical trials Cognition Disorders - complications Cognition Disorders - physiopathology Cognitive ability Defects Dependovirus - metabolism Disease Models, Animal Gene deletion Genetic aspects Genetic disorders Genetic vectors Health aspects HEK293 Cells Hemophilia Humans Imprinting Kinases Ligases Long-Term Potentiation Maze Learning - physiology Memory Mental disorders Mice Morphology Motor ability Motor Activity - physiology Mutation Pharmacology Phosphorylation Physiology Proteins Rodents Seizures Ubiquitin Ubiquitin-protein ligase Ubiquitin-Protein Ligases - metabolism Uniparental disomy Vectors (Biology) Viruses
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