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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. (Link opens in a new window) PubMed (Link opens in a new window) Article

Plasmids from Article

ID Plasmid Purpose
194543pET-45b-mEGFP-HMGB1-WTBacterial Expression of 6xHis mEGFP-HMGB1 WT Fusion Protein
194544pET-45b-mEGFP-HMGB1-K184RfsBacterial Expression of 6xHis mEGFP-HMGB1 Mutant (K184Rfs*44) Fusion Protein
194545pET-28a-mCherry-MED1-IDRBacterial Expression of 6xHis mCherry-MED1-IDR Fusion Protein
194546pET-45b-mCherry-NPM1Bacterial Expression of 6xHis mCherry-NPM1 Fusion Protein
194547pET-45b-mCherry-Cbx5Bacterial Expression of 6xHis mCherry-HP1a Fusion Protein
194548pRK5-mEGFP-HMGB1-WT-Full-lengthMammalian Expression of mEGFP-HMGB1 WT Fusion Protein
194549pRK5-mEGFP-HMGB1-WT-IDRMammalian Expression of mEGFP-HMGB1 WT IDR Fusion Protein
194550pRK5-mEGFP-HMGB1-MUT-Full-lengthMammalian Expression of mEGFP-HMGB1 Mutant (K184Rfs*44) Fusion Protein
194551pRK5-mEGFP-HMGB1-MUT-IDRMammalian Expression of mEGFP-HMGB1 Mutant (K184Rfs*44) IDR Fusion Protein
194552pRK5-mEGFP-HMGB1-MUT-IDR2Mammalian Expression of mEGFP-HMGB1 Mutant (K184Rfs*44) IDR Fusion Protein
194553pRK5-mEGFP-HMGB1-MUT-PatchlessMammalian Expression of mEGFP-HMGB1 Mutant (K184Rfs*44) Fusion Protein, "Patchless" variant
194554pRK5-mEGFP-HMGB1-delIDRMammalian Expression of mEGFP-HMGB1 WT Fusion Protein, "del IDR" variant
194555pRK5-mEGFP-HMGB1-delFSMammalian Expression of mEGFP-HMGB1 WT Fusion Protein, "del FS" variant
194556pRK5-mEGFP-HMGB1-MUT-RdelMammalian Expression of mEGFP-HMGB1 Mutant (K184Rfs*44) Fusion Protein, "R del" variant
194557pRK5-mEGFP-HMGB1-MUT-RtoAMammalian Expression of mEGFP-HMGB1 Mutant (K184Rfs*44) Fusion Protein, "R > A" variant
194558pRK5-mEGFP-HMGB1-MUT-RorKtoAMammalian Expression of mEGFP-HMGB1 Mutant (K184Rfs*44) Fusion Protein, "R or K > A" variant
194559pRK5-mEGFP-HMGB1-MUT-RtoKMammalian Expression of mEGFP-HMGB1 Mutant (K184Rfs*44) Fusion Protein, "R > K" variant
194560pRK5-mEGFP-HMGB1-MUT-KtoRMammalian Expression of mEGFP-HMGB1 Mutant (K184Rfs*44) Fusion Protein, "K > R" variant
194561pPB-TetON-mEGFP-HMGB1-WTDox-inducible Mammalian Expression of mEGFP-HMGB1 WT IDR Fusion Protein
194562pPB-TetON-mEGFP-HMGB1-MUTDox-inducible Mammalian Expression of mEGFP-HMGB1 Mutant (K184Rfs*44) Fusion Protein
194563pPB-TetON-mEGFP-HMGB1-MUT-PatchlessDox-inducible Mammalian Expression of mEGFP-HMGB1 Mutant "Patchless" (K184Rfs*44, "Patchless" variant) Fusion Protein
194564pRK5-mEGFP-HMGB3-WTMammalian Expression of mEGFP-HMGB3 WT Fusion Protein
194565pRK5-mEGFP-HMGB3-MUTMammalian Expression of mEGFP-HMGB3 Mutant (K161Ifs*55) Fusion Protein
194566pRK5-mEGFP-FOXC1-WTMammalian Expression of mEGFP-FOXC1 WT Fusion Protein
194567pRK5-mEGFP-FOXC1-MUTMammalian Expression of mEGFP-FOXC1 Mutant (Q200Rfs*109) Fusion Protein
194568pRK5-mEGFP-FOXF1-WTMammalian Expression of mEGFP-FOXF1 WT Fusion Protein
194569pRK5-mEGFP-FOXF1-MUTMammalian Expression of mEGFP-FOXF1 Mutant (A231Rfs*61) Fusion Protein
194570pRK5-mEGFP-MYOD1-WTMammalian Expression of mEGFP-MYOD1 WT Fusion Protein
194571pRK5-mEGFP-MYOD1-MUTMammalian Expression of mEGFP-MYOD1 Mutant (R188Pfs*90) Fusion Protein
194572pRK5-mEGFP-RAX-WTMammalian Expression of mEGFP-RAX WT Fusion Protein
194573pRK5-mEGFP-RAX-MUTMammalian Expression of mEGFP-RAX Mutant (S222Rfs*63) Fusion Protein
194574pRK5-mEGFP-RUNX1-WTMammalian Expression of mEGFP-RUNX1 WT Fusion Protein
194575pRK5-mEGFP-RUNX1-MUTMammalian Expression of mEGFP-RUNX1 Mutant (G363Afs*229) Fusion Protein
194576pRK5-mEGFP-PHOX2B-WTMammalian Expression of mEGFP-PHOX2B WT Fusion Protein
194577pRK5-mEGFP-PHOX2B-MUTMammalian Expression of mEGFP-PHOX2B Mutant (S207Afs*102) Fusion Protein
194578pRK5-mEGFP-CALR-WTMammalian Expression of mEGFP-CALR WT Fusion Protein
194579pRK5-mEGFP-CALR-MUTMammalian Expression of mEGFP-CALR Mutant (D387Rfs*44) Fusion Protein
194580pRK5-mEGFP-SOX2-WTMammalian Expression of mEGFP- SOX2 WT Fusion Protein
194581pRK5-mEGFP-SOX2-MUTMammalian Expression of mEGFP-SOX2 Mutant (M276Ifs*95) Fusion Protein
194582pRK5-mEGFP-SQSTM1-WTMammalian Expression of mEGFP-SQSTM1 WT Fusion Protein
194583pRK5-mEGFP-SQSTM1-MUTMammalian Expression of mEGFP-SQSTM1 Mutant (V271Sfs*41) Fusion Protein
194584pRK5-mEGFP-FOXL2-WTMammalian Expression of mEGFP-FOXL2 WT Fusion Protein
194585pRK5-mEGFP-FOXL2-MUTMammalian Expression of mEGFP-FOXL2 Mutant (A328Pfs*28) Fusion Protein
194586pRK5-mEGFP-DVL1-WTMammalian Expression of mEGFP-DVL1 WT Fusion Protein
194587pRK5-mEGFP-DVL1-MUTMammalian Expression of mEGFP-DVL1 Mutant (H502Pfs*143) Fusion Protein

Antibodies from Article