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Literature DB >> 18846633

Gene symbol: UBE3A. Disease: Angelman syndrome.

O Thomas Mueller¹, Adam Coovadia.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 2008 PMID： 18846633

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

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Cited

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3 in total

1. Angelman syndrome-associated point mutations in the Zn²⁺-binding N-terminal (AZUL) domain of UBE3A ubiquitin ligase inhibit binding to the proteasome.

Authors: Simone Kühnle; Gustavo Martínez-Noël; Flavien Leclere; Sebastian D Hayes; J Wade Harper; Peter M Howley
Journal: J Biol Chem Date: 2018-09-26 Impact factor: 5.157

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

Authors: Stijn N V Bossuyt; A Mattijs Punt; Ilona J de Graaf; Janny van den Burg; Mark G Williams; Helen Heussler; Ype Elgersma; Ben Distel
Journal: Hum Mol Genet Date: 2021-04-30 Impact factor: 6.150

Review 3. Quantifying Genomic Imprinting at Tissue and Cell Resolution in the Brain.

Authors: Annie Varrault; Emeric Dubois; Anne Le Digarcher; Tristan Bouschet
Journal: Epigenomes Date: 2020-09-04

3 in total

Gene symbol: UBE3A. Disease: Angelman syndrome.

1. Angelman syndrome-associated point mutations in the Zn2+-binding N-terminal (AZUL) domain of UBE3A ubiquitin ligase inhibit binding to the proteasome.

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

Review 3. Quantifying Genomic Imprinting at Tissue and Cell Resolution in the Brain.

1. Angelman syndrome-associated point mutations in the Zn²⁺-binding N-terminal (AZUL) domain of UBE3A ubiquitin ligase inhibit binding to the proteasome.