Angelman syndrome: a journey through the brain-Reference-Cited by-同舟云学术

Angelman syndrome: a journey through the brain

Published:2020-03-14 Issue:11 Volume:287 Page:2154-2175
ISSN:1742-464X
Container-title:The FEBS Journal
language:en
Short-container-title:FEBS J

Author:

Maranga Carina¹²^ORCID,Fernandes Tiago G.¹^ORCID,Bekman Evguenia¹³²^ORCID,da Rocha Simão Teixeira²^ORCID

Affiliation:

1. Department of Bioengineering and iBB‐Institute for Bioengineering and Biosciences Instituto Superior Técnico Universidade de Lisboa Lisboa Portugal

2. Instituto de Medicina Molecular João Lobo Antunes Faculdade de Medicina Universidade de Lisboa Lisboa Portugal

3. The Discoveries Centre for Regenerative and Precision Medicine Universidade de Lisboa Lisboa Portugal

Funder

Fundação para a Ciência e a Tecnologia

Federación Española de Enfermedades Raras

Horizon 2020 Framework Programme

Publisher

Wiley

Subject

Cell Biology,Molecular Biology,Biochemistry

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/febs.15258

Reference120 articles.

1. Angelman Syndrome

2. UBE3A/E6-AP mutations cause Angelman syndrome

3. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

4. Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53.

5. Neurodevelopmental disorders involving genomic imprinting at human chromosome 15q11–q13

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