Multiscale spatio-temporal dynamics of UBE3A gene in brain physiology and neurodevelopmental disorders

• Published in: Neurobiology of disease Vol. 201; p. 106669
• Main Authors: Biagioni, Martina, Baronchelli, Federica, Fossati, Matteo
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 15.10.2024; Elsevier
• Subjects: Angelman Syndrome - genetics; Animals; Brain - metabolism; Chromosomes, Human, Pair 15 - genetics; Developmental trajectories of disease; Humans; Neurodevelopmental disorders; Neurodevelopmental Disorders - genetics; Neuronal circuits; Neurons - metabolism; Protein ubiquitination; Synapses; Ubiquitin-Protein Ligases - genetics; Ubiquitin-Protein Ligases - metabolism; Neuronal circuits; Neurodevelopmental disorders; Synapses; Protein ubiquitination; Developmental trajectories of disease

The UBE3A gene, located in the chromosomal region 15q11-13, is subject to neuron-specific genomic imprinting and it plays a critical role in brain development. Genetic defects of UBE3A cause severe neurodevelopmental disorders, namely the Angelman syndrome (AS) and the 15q11.2-q13.3 duplication synd...