Generation of a Novel Rat Model of Angelman Syndrome with a Complete Ube3a Gene Deletion.

doi:10.1002/aur.2267

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Article

Generation of a Novel Rat Model of Angelman Syndrome with a Complete Ube3a Gene Deletion.

Autism research : official journal of the International Society for Autism Research - 1 Mar 2020

Dodge Andie, Peters Melinda M, Greene Hayden E, Dietrick Clifton, Botelho Robert, Chung Diana, Willman Jonathan, Nenninger Austin W, Ciarlone Stephanie, Kamath Siddharth G, Houdek Pavel, Sumová Alena, Anderson Anne E, Dindot Scott V, Berg Elizabeth L, O'Geen Henriette, Segal David J, Silverman Jill L, Weeber Edwin J, Nash Kevin R

Abstract excerpt

Angelman syndrome (AS) is a rare genetic disorder characterized by severe intellectual disability, seizures, lack of speech, and ataxia. The gene responsible for AS was identified as Ube3a and it encodes for E6AP, an E3 ubiquitin ligase. Currently, there is very little known about E6AP's mechanism of action in vivo or how the lack of this protein in neurons may contribute to the AS phenotype. Elucidating the...

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PMID: 31961493
DOI: 10.1002/aur.2267
PMCID: PMC7787396

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