The role of Ube3a in neuronal development

Angelman syndrome (AS) is a genetic disorder characterized by paternal imprinting and maternal deletion of Ube3a. Therefore AS patients have reduced levels of expression of Ube3a in several regions of the brain including the hippocampus and cerebellum. AS patients have motor impairment, mental retar...

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Bibliographic Details
Main Author: Resende, Carlos Manuel dos Santos (author)
Format: masterThesis
Language:eng
Published: 2023
Subjects:
Angelman syndrome
Ube3a
Proteasomal degradation
Neurodevelopment
Synaptic activity
Excitatory synapse
Online Access:http://hdl.handle.net/10773/33367
Country:Portugal
Oai:oai:ria.ua.pt:10773/33367

Internet

http://hdl.handle.net/10773/33367

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