Kwang-Soo Kim's research while affiliated with Washington University in St. Louis and other places
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Publications (2)
UBE3A is a HECT (homologous to E6AP C-terminus) domain E3 ubiquitin ligase that targets substrate proteins for degradation through the ubiquitin-proteasome pathway. The UBE3Agene is of unique interest for its gene dosage-dependent effect in the developing brain: Precise deletion or null mutation of the maternal copy of UBE3A causes a severe intelle...
The mechanisms that underlie the extensive phenotypic diversity in genetic disorders are poorly understood. Here, we develop a large-scale assay to characterize the functional valence (gain or loss-of-function) of missense variants identified in UBE3A, the gene whose loss-of-function causes the neurodevelopmental disorder Angelman syndrome. We iden...
Citations
... Twenty-eight percent of the participants had a class I deletion, 40% had a class II deletion, 13% had UBE3A pathogenic variants, 8% had ImpD, and 11% had UPD. All the UBE3A variants were loss-of-function variants [27]. The number of visits per participant ranged from one to nine (Mean: 3.7, SD: 2.3). ...
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