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Nature, ISSN 0028-0836, 03/2017, Volume 543, Issue 7646, pp. 507 - 512
Maternally inherited 15q11-13 chromosomal triplications cause a frequent and highly penetrant type of autism linked to increased gene dosages of UBE3A, which... 
ENERGY-BALANCE | EXCITATORY NEURONS | UBIQUITIN-PROTEIN LIGASE | SPECTRUM DISORDER | MULTIDISCIPLINARY SCIENCES | MOUSE MODEL | COPY NUMBER | ANGELMAN-SYNDROME | SYNAPSE FORMATION | E6-ASSOCIATED PROTEIN | GABAERGIC NEURONS | Autism | Genetic aspects | Seizures (Medicine) | Gene expression | Health aspects | Brain | Convulsions & seizures | Social skills | Neurons | Genes
Journal Article
Indian Journal of Pediatrics, ISSN 0019-5456, 05/2018, Volume 85, Issue 5, pp. 390 - 391
A 12-y-old boy presented with developmental delay, autism, epilepsy, limb tremors and behavioral problems which posed a diagnostic challenge. Though his... 
Angelman syndrome | UBE3A | Happy Puppet syndrome | Ubiquitin Protein Ligase E3A | PEDIATRICS | PRADER-WILLI | Genetic Testing | Exons | Chromosomes, Human, Pair 15 | Humans | Angelman Syndrome - diagnosis | Angelman Syndrome - genetics | Male | Mutation | Ubiquitin-Protein Ligases - genetics | Child | Ubiquitin | Autism | Gene mutations | Ligases | Epilepsy | Genes | College graduates | Genetic aspects
Journal Article
Journal Article
Journal of Neuroscience, ISSN 0270-6474, 09/2018, Volume 38, Issue 37, pp. 8011 - 8030
Journal Article
The Journal of Neuroscience, ISSN 0270-6474, 09/2018, Volume 38, Issue 37, p. 8011
E3 ubiquitin ligase (UBE3A) levels in the brain need to be tightly regulated, as loss of functional UBE3A protein is responsible for the severe... 
Ubiquitin | Brain | Cortex (prefrontal) | Phenotypes | Interneurons | Neurons | Brain slice preparation | Excitability | Reversing | Action potential | Activation | Neurodevelopmental disorders | Proteins | Autism | Pyramidal cells | Reinstatement | Reaction kinetics | Physiology | Kinetics | Ubiquitin-protein ligase
Journal Article
Journal Article
Genomics, ISSN 0888-7543, 09/2001, Volume 77, Issue 1-2, pp. 105 - 113
Journal Article