Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations

Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by deletion (~75%) or mutation (~10%) of the ubiquitin E3 ligase A (UBE3A) gene, which encodes a HECT type E3 ubiquitin protein ligase. Although the critical substrates of UBE3A are unknown, previous studies have suggested a criti...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Bossuyt, Stijn N V, Punt, A Mattijs, de Graaf, Ilona J, van den Burg, Janny, Williams, Mark G, Heussler, Helen, Elgersma, Ype, Distel, Ben
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2021
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General Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8101352/
https://ncbi.nlm.nih.gov/pubmed/33607653
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddab050
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