Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

doi:10.1016/j.ajhg.2012.10.011

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Article

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

American journal of human genetics - 7 Dec 2012

Basel-Vanagaite Lina, Dallapiccola Bruno, Ramirez-Solis Ramiro, Segref Alexandra, Thiele Holger, Edwards Andrew, Arends Mark J, Miró Xavier, White Jacqueline K, Désir Julie, Abramowicz Marc, Dentici Maria Lisa, Lepri Francesca, Hofmann Kay, Har-Zahav Adi, Ryder Edward, Karp Natasha A, Estabel Jeanne, Gerdin Anna-Karin B, Podrini Christine, Ingham Neil J, Altmüller Janine, Nürnberg Gudrun, Frommolt Peter, Abdelhak Sonia, Pasmanik-Chor Metsada, Konen Osnat, Kelley Richard I, Shohat Mordechai, Nürnberg Peter, Flint Jonathan, Steel Karen P, Hoppe Thorsten, Kubisch Christian, Adams David J, Borck Guntram

Abstract excerpt

Ubiquitination plays a crucial role in neurodevelopment as exemplified by Angelman syndrome, which is caused by genetic alterations of the ubiquitin ligase-encoding UBE3A gene. Although the function of UBE3A has been widely studied, little is known about its paralog UBE3B. By using exome and capi...

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PMID: 23200864
DOI: 10.1016/j.ajhg.2012.10.011
PMCID: PMC3516591

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23200864-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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