Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Mensah MA, Niskanen H, Magalhaes AP, Basu S, Kircher M, Sczakiel HL, Reiter AMV, Elsner J, Meinecke P, Biskup S, Chung BHY, Dombrowsky G, Eckmann-Scholz C, Hitz MP, Hoischen A, Holterhus PM, Hulsemann W, Kahrizi K, Kalscheuer VM, Kan A, Krumbiegel M, Kurth I, Leubner J, Longardt AC, Moritz JD, Najmabadi H, Skipalova K, Snijders Blok L, Tzschach A, Wiedersberg E, Zenker M, Garcia-Cabau C, Buschow R, Salvatella X, Kraushar ML, Mundlos S, Caliebe A, Spielmann M, Horn D, Hnisz D
Nature. 2023 Feb;614(7948):564-571. doi: 10.1038/s41586-022-05682-1. Epub 2023 Feb 8. PubMed Article
Mensah MA, Niskanen H, Magalhaes AP, Basu S, Kircher M, Sczakiel HL, Reiter AMV, Elsner J, Meinecke P, Biskup S, Chung BHY, Dombrowsky G, Eckmann-Scholz C, Hitz MP, Hoischen A, Holterhus PM, Hulsemann W, Kahrizi K, Kalscheuer VM, Kan A, Krumbiegel M, Kurth I, Leubner J, Longardt AC, Moritz JD, Najmabadi H, Skipalova K, Snijders Blok L, Tzschach A, Wiedersberg E, Zenker M, Garcia-Cabau C, Buschow R, Salvatella X, Kraushar ML, Mundlos S, Caliebe A, Spielmann M, Horn D, Hnisz D
Nature. 2023 Feb;614(7948):564-571. doi: 10.1038/s41586-022-05682-1. Epub 2023 Feb 8. PubMed Article
Plasmids from Article
| ID | Plasmid | Purpose |
|---|---|---|
| 194543 | pET-45b-mEGFP-HMGB1-WT | Bacterial Expression of 6xHis mEGFP-HMGB1 WT Fusion Protein |
| 194544 | pET-45b-mEGFP-HMGB1-K184Rfs | Bacterial Expression of 6xHis mEGFP-HMGB1 Mutant (K184Rfs*44) Fusion Protein |
| 194545 | pET-28a-mCherry-MED1-IDR | Bacterial Expression of 6xHis mCherry-MED1-IDR Fusion Protein |
| 194546 | pET-45b-mCherry-NPM1 | Bacterial Expression of 6xHis mCherry-NPM1 Fusion Protein |
| 194547 | pET-45b-mCherry-Cbx5 | Bacterial Expression of 6xHis mCherry-HP1a Fusion Protein |
| 194548 | pRK5-mEGFP-HMGB1-WT-Full-length | Mammalian Expression of mEGFP-HMGB1 WT Fusion Protein |
| 194549 | pRK5-mEGFP-HMGB1-WT-IDR | Mammalian Expression of mEGFP-HMGB1 WT IDR Fusion Protein |
| 194550 | pRK5-mEGFP-HMGB1-MUT-Full-length | Mammalian Expression of mEGFP-HMGB1 Mutant (K184Rfs*44) Fusion Protein |
| 194551 | pRK5-mEGFP-HMGB1-MUT-IDR | Mammalian Expression of mEGFP-HMGB1 Mutant (K184Rfs*44) IDR Fusion Protein |
| 194552 | pRK5-mEGFP-HMGB1-MUT-IDR2 | Mammalian Expression of mEGFP-HMGB1 Mutant (K184Rfs*44) IDR Fusion Protein |
| 194553 | pRK5-mEGFP-HMGB1-MUT-Patchless | Mammalian Expression of mEGFP-HMGB1 Mutant (K184Rfs*44) Fusion Protein, "Patchless" variant |
| 194554 | pRK5-mEGFP-HMGB1-delIDR | Mammalian Expression of mEGFP-HMGB1 WT Fusion Protein, "del IDR" variant |
| 194555 | pRK5-mEGFP-HMGB1-delFS | Mammalian Expression of mEGFP-HMGB1 WT Fusion Protein, "del FS" variant |
| 194556 | pRK5-mEGFP-HMGB1-MUT-Rdel | Mammalian Expression of mEGFP-HMGB1 Mutant (K184Rfs*44) Fusion Protein, "R del" variant |
| 194557 | pRK5-mEGFP-HMGB1-MUT-RtoA | Mammalian Expression of mEGFP-HMGB1 Mutant (K184Rfs*44) Fusion Protein, "R > A" variant |
| 194558 | pRK5-mEGFP-HMGB1-MUT-RorKtoA | Mammalian Expression of mEGFP-HMGB1 Mutant (K184Rfs*44) Fusion Protein, "R or K > A" variant |
| 194559 | pRK5-mEGFP-HMGB1-MUT-RtoK | Mammalian Expression of mEGFP-HMGB1 Mutant (K184Rfs*44) Fusion Protein, "R > K" variant |
| 194560 | pRK5-mEGFP-HMGB1-MUT-KtoR | Mammalian Expression of mEGFP-HMGB1 Mutant (K184Rfs*44) Fusion Protein, "K > R" variant |
| 194561 | pPB-TetON-mEGFP-HMGB1-WT | Dox-inducible Mammalian Expression of mEGFP-HMGB1 WT IDR Fusion Protein |
| 194562 | pPB-TetON-mEGFP-HMGB1-MUT | Dox-inducible Mammalian Expression of mEGFP-HMGB1 Mutant (K184Rfs*44) Fusion Protein |
| 194563 | pPB-TetON-mEGFP-HMGB1-MUT-Patchless | Dox-inducible Mammalian Expression of mEGFP-HMGB1 Mutant "Patchless" (K184Rfs*44, "Patchless" variant) Fusion Protein |
| 194564 | pRK5-mEGFP-HMGB3-WT | Mammalian Expression of mEGFP-HMGB3 WT Fusion Protein |
| 194565 | pRK5-mEGFP-HMGB3-MUT | Mammalian Expression of mEGFP-HMGB3 Mutant (K161Ifs*55) Fusion Protein |
| 194566 | pRK5-mEGFP-FOXC1-WT | Mammalian Expression of mEGFP-FOXC1 WT Fusion Protein |
| 194567 | pRK5-mEGFP-FOXC1-MUT | Mammalian Expression of mEGFP-FOXC1 Mutant (Q200Rfs*109) Fusion Protein |
| 194568 | pRK5-mEGFP-FOXF1-WT | Mammalian Expression of mEGFP-FOXF1 WT Fusion Protein |
| 194569 | pRK5-mEGFP-FOXF1-MUT | Mammalian Expression of mEGFP-FOXF1 Mutant (A231Rfs*61) Fusion Protein |
| 194570 | pRK5-mEGFP-MYOD1-WT | Mammalian Expression of mEGFP-MYOD1 WT Fusion Protein |
| 194571 | pRK5-mEGFP-MYOD1-MUT | Mammalian Expression of mEGFP-MYOD1 Mutant (R188Pfs*90) Fusion Protein |
| 194572 | pRK5-mEGFP-RAX-WT | Mammalian Expression of mEGFP-RAX WT Fusion Protein |
| 194573 | pRK5-mEGFP-RAX-MUT | Mammalian Expression of mEGFP-RAX Mutant (S222Rfs*63) Fusion Protein |
| 194574 | pRK5-mEGFP-RUNX1-WT | Mammalian Expression of mEGFP-RUNX1 WT Fusion Protein |
| 194575 | pRK5-mEGFP-RUNX1-MUT | Mammalian Expression of mEGFP-RUNX1 Mutant (G363Afs*229) Fusion Protein |
| 194576 | pRK5-mEGFP-PHOX2B-WT | Mammalian Expression of mEGFP-PHOX2B WT Fusion Protein |
| 194577 | pRK5-mEGFP-PHOX2B-MUT | Mammalian Expression of mEGFP-PHOX2B Mutant (S207Afs*102) Fusion Protein |
| 194578 | pRK5-mEGFP-CALR-WT | Mammalian Expression of mEGFP-CALR WT Fusion Protein |
| 194579 | pRK5-mEGFP-CALR-MUT | Mammalian Expression of mEGFP-CALR Mutant (D387Rfs*44) Fusion Protein |
| 194580 | pRK5-mEGFP-SOX2-WT | Mammalian Expression of mEGFP- SOX2 WT Fusion Protein |
| 194581 | pRK5-mEGFP-SOX2-MUT | Mammalian Expression of mEGFP-SOX2 Mutant (M276Ifs*95) Fusion Protein |
| 194582 | pRK5-mEGFP-SQSTM1-WT | Mammalian Expression of mEGFP-SQSTM1 WT Fusion Protein |
| 194583 | pRK5-mEGFP-SQSTM1-MUT | Mammalian Expression of mEGFP-SQSTM1 Mutant (V271Sfs*41) Fusion Protein |
| 194584 | pRK5-mEGFP-FOXL2-WT | Mammalian Expression of mEGFP-FOXL2 WT Fusion Protein |
| 194585 | pRK5-mEGFP-FOXL2-MUT | Mammalian Expression of mEGFP-FOXL2 Mutant (A328Pfs*28) Fusion Protein |
| 194586 | pRK5-mEGFP-DVL1-WT | Mammalian Expression of mEGFP-DVL1 WT Fusion Protein |
| 194587 | pRK5-mEGFP-DVL1-MUT | Mammalian Expression of mEGFP-DVL1 Mutant (H502Pfs*143) Fusion Protein |