ISGylation is disrupted by UBA7 gene variants identified in individuals with neurodevelopmental disorder phenotypes
Bandi V, Venema M, Wallace I, Mol MO, Nikoncuk A, Schot R, van Slegtenhorst M, Bijlsma E, Khan A, White SM, Rius R, Delatycki MB, Narayanan V, Swatek KN, Barakat TS, Bustos F
iScience 2026. doi: 10.1016/j.isci.2026.115454
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Article
Plasmids from Article
| ID | Plasmid | Purpose |
|---|---|---|
| 246473 | pCAGGS-HA-UBA7-V548L | Mammalian expression of HA-tagged human UBA7-V548L; for transfection |
| 246474 | pCAGGS-HA-UBA7-K709Sfs | Mammalian expression of HA-tagged human UBA7-K709Sfs; for transfection |
| 246475 | pCAGGS-GFP-WTUBA7-IRES-mcherry | Mammalian expression of AcGFP-tagged WT human UBA7, co-expresses mCherry; for transfection |
| 246476 | pCAGGS-GFP-UBA7-V548L-IRES-mcherry | Mammalian expression of AcGFP-tagged human UBA7-V548L, co-expresses mCherry; for transfection |
| 246477 | pCAGGS-GFP-UBA7-K709Sfs-IRES-mcherry | Mammalian expression of AcGFP-tagged human UBA7-K709Sfs, co-expresses mCherry; for transfection |
| 251244 | pCAGGS-HA-UBA7-Trp311* | Expression of UBA7 with nonsense mutation (Trp311 Stop) |
| 251245 | pCAGGS-GFP-UBA7-Trp311*-IRES-mcherry | Expression of UBA7 with nonsense mutation (Trp311 Stop) |