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BOMA, a machine-learning framework for comparative gene expression analysis across brains and organoids

https://doi.org/10.1016/j.crmeth.2023.100409

He, Chenfeng ; Kalafut, Noah Cohen ; Sandoval, Soraya O. ; Risgaard, Ryan ; Sirois, Carissa L. ; Yang, Chen ; Khullar, Saniya ; Suzuki, Marin ; Huang, Xiang ; Chang, Qiang ; et al ( February 2023 , Cell Reports Methods)

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Identification of Small-Molecule Activators of the Ubiquitin Ligase E6AP/UBE3A and Angelman Syndrome-Derived E6AP/UBE3A Variants

https://doi.org/10.1016/j.chembiol.2020.08.017

Offensperger, Fabian ; Müller, Franziska ; Jansen, Jasmin ; Hammler, Daniel ; Götz, Kathrin H. ; Marx, Andreas ; Sirois, Carissa L. ; Chamberlain, Stormy J. ; Stengel, Florian ; Scheffner, Martin ( December 2020 , Cell Chemical Biology)
null (Ed.)
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Abundance and localization of human UBE3A protein isoforms

https://doi.org/10.1093/hmg/ddaa191

Sirois, Carissa L ; Bloom, Judy E ; Fink, James J ; Gorka, Dea ; Keller, Steffen ; Germain, Noelle D ; Levine, Eric S ; Chamberlain, Stormy J ( August 2020 , Human Molecular Genetics)
null (Ed.)
Abstract Loss of UBE3A expression, a gene regulated by genomic imprinting, causes Angelman syndrome (AS), a rare neurodevelopmental disorder. The UBE3A gene encodes an E3 ubiquitin ligase with three known protein isoforms in humans. Studies in mouse suggest that the human isoforms may have differences in localization and neuronal function. A recent case study reported mild AS phenotypes in individuals lacking one specific isoform. Here we have used CRISPR/Cas9 to generate isogenic human embryonic stem cells (hESCs) that lack the individual protein isoforms. We demonstrate that isoform 1 accounts for the majority of UBE3A protein in hESCs and neurons. We also show that UBE3A predominantly localizes to the cytoplasm in both wild type and isoform-null cells. Finally, we show that neurons lacking isoform 1 display a less severe electrophysiological AS phenotype.
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