Exploring cell reprogramming techniques for Angelman Syndrome disease modelling

Angelman Syndrome (AS) is an imprinted neurodevelopmental disease with no cure caused by the lack of UBE3A expression, which, in neurons, is exclusively maternally expressed. The paternal UBE3A allele is silenced by the UBE3A antisense transcript (UBE3A-ATS), which is only expressed from the paterna...

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Bibliographic Details
Main Author: Joaquim, Mariana Isabel Lopes (author)
Format: masterThesis
Language:eng
Published: 2018
Subjects:
Angelman Syndrome
disease modelling
UBE3A
UBE3A-ATS
neural direct conversion
iPSCs neural differentiation
Domínio/Área Científica::Engenharia e Tecnologia::Outras Engenharias e Tecnologias
Online Access:http://hdl.handle.net/10362/42365
Country:Portugal
Oai:oai:run.unl.pt:10362/42365

Internet

http://hdl.handle.net/10362/42365

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