Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome.
Bryant CJ, Lorea CF, de Almeida HL Jr, Weinert L, Vedolin L, Pinto E Vairo F, Baserga SJ
Proc Natl Acad Sci U S A. 2021 May 11;118(19). pii: 2017777118. doi: 10.1073/pnas.2017777118.
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Plasmids from Article
| ID | Plasmid | Purpose |
|---|---|---|
| 169261 | p414GPD-3xFLAG-Nop4 WT | S. cerevisiae (yeast) vector for constitutive expression of 3xFLAG-Nop4 WT |
| 169262 | p414GPD-3xFLAG-Nop4 L306P | S. cerevisiae (yeast) vector for constitutive expression of 3xFLAG-Nop4 L306P |
| 169263 | p414GPD-3xFLAG-Nop4 dE5 | S. cerevisiae (yeast) vector for constitutive expression of 3xFLAG-Nop4 delta Exon 5 |
| 169264 | p414GPD-3xFLAG-Nop4 dE8 | S. cerevisiae (yeast) vector for constitutive expression of 3xFLAG-Nop4 delta Exon 8 |
| 169265 | p414GPD-3xFLAG-RBM28 WT | S. cerevisiae (yeast) vector for constitutive expression of 3xFLAG-RBM28 WT |
| 169266 | p414GPD-3xFLAG-RBM28 L351P | S. cerevisiae (yeast) vector for constitutive expression of 3xFLAG-RBM28 L351P |
| 169267 | p414GPD-3xFLAG-RBM28 dE5 | S. cerevisiae (yeast) vector for constitutive expression of 3xFLAG-RBM28 delta Exon 5 |
| 169268 | p414GPD-3xFLAG-RBM28 dE8 | S. cerevisiae (yeast) vector for constitutive expression of 3xFLAG-RBM28 delta Exon 8 |
| 169269 | pcDNA5/FRT/TO - RBM28 E5 WT minigene | Mammalian vector for constitutive expression of RBM28 Exon 5 WT minigene |
| 169270 | pcDNA5/FRT/TO - RBM28 E5 GT>A minigene | Mammalian vector for constitutive expression of RBM28 Exon 5 GT>A minigene |
| 169271 | pcDNA5/FRT/TO - RBM28 E8 WT minigene | Mammalian vector for constitutive expression of RBM28 Exon 8 WT minigene |
| 169272 | pcDNA5/FRT/TO - RBM28 E8 G>T minigene | Mammalian vector for constitutive expression of RBM28 Exon 8 G>T minigene |
| 169273 | pcDNA5/FRT/TO - RBM28 Exon1-6 E5 WT minigene | Mammalian vector for constitutive expression of RBM28 Exon 1-6 WT minigene |
| 169274 | pcDNA5/FRT/TO - RBM28 Exon1-6 E5 GT>A minigene | Mammalian vector for constitutive expression of RBM28 Exon 1-6 GT>A minigene |