PASCAL-MID

 Department of Clinical Medicine PASCAL-MID Background literature

Background literature

Publications relevant to the center

  • Lafaille FG, Harschnitz O, Lee YS, ... , Mogensen TH, Quintana-Murci L, Tessier-Lavigne M, Smith GA, Notarangelo LD, Studer L, Gilbert W, Abel L, Casanova JL, and Zhang SY. Nature Medicine. 2019  25:1873–1884.
  • Carter-Timofte ME, Hansen AF, Mardahl M, Fribourg S, Rapaport F, Zhang SY,Casanova JL, Paludan SR, Christiansen M, Larsen CS, Mogensen TH. Varicella-zoster virus CNS vasculitis and RNA polymerase III gene mutation in identical twins. Neurol Neuroimmunol Neuroinflamm. 2018 Sep 7;5(6):e500. doi:10.1212/NXI.0000000000000500. eCollection 2018 Nov. PubMed PMID: 30211253; PubMedCentral PMCID: PMC6131052. 
  • Charlesworth CT, Camarena J, Cromer MK, Vaidyanathan S, Bak RO, Carte JM,Potter J, Dever DP, Porteus MH. Priming Human Repopulating Hematopoietic Stem and Progenitor Cells for Cas9/sgRNA Gene Targeting. Mol Ther Nucleic Acids. 2018 Sep 7;12:89-104. doi: 10.1016/j.omtn.2018.04.017. Epub 2018 May 3. PubMed PMID:30195800; PubMed Central PMCID: PMC6023838.
  • Vakulskas CA, Dever DP, Rettig GR, Turk R, Jacobi AM, Collingwood MA, Bode NM,McNeill MS, Yan S, Camarena J, Lee CM, Park SH, Wiebking V, Bak RO, Gomez-Ospina N, Pavel-Dinu M, Sun W, Bao G, Porteus MH, Behlke MA. A high-fidelity Cas9 mutantdelivered as a ribonucleoprotein complex enables efficient gene editing in human hematopoietic stem and progenitor cells. Nat Med. 2018 Aug;24(8):1216-1224. doi: 10.1038/s41591-018-0137-0. Epub 2018 Aug 6. PubMed PMID: 30082871; PubMed CentralPMCID: PMC6107069.
  • Bak RO, Dever DP, Reinisch A, Cruz Hernandez D, Majeti R, Porteus MH.Multiplexed genetic engineering of human hematopoietic stem and progenitor cells using CRISPR/Cas9 and AAV6. Elife. 2017 Sep 28;6. pii: e27873. doi:10.7554/eLife.27873. PubMed PMID: 28956530; PubMed Central PMCID: PMC5656432.
  • Ogunjimi B, Zhang SY, Sørensen KB, Skipper KA, Carter-Timofte M, Kerner G,Luecke S, Prabakaran T, Cai Y, Meester J, Bartholomeus E, Bolar NA, Vandeweyer G,Claes C, Sillis Y, Lorenzo L, Fiorenza RA, Boucherit S, Dielman C, Heynderickx S,Elias G, Kurotova A, Auwera AV, Verstraete L, Lagae L, Verhelst H, Jansen A,Ramet J, Suls A, Smits E, Ceulemans B, Van Laer L, Plat Wilson G, Kreth J, PicardC, Von Bernuth H, Fluss J, Chabrier S, Abel L, Mortier G, Fribourg S, MikkelsenJG, Casanova JL, Paludan SR, Mogensen TH. Inborn errors in RNA polymerase IIIunderlie severe varicella zoster virus infections. J Clin Invest. 2017 Sep1;127(9):3543-3556. doi: 10.1172/JCI92280. Epub 2017 Aug 7. PubMed PMID:28783042; PubMed Central PMCID: PMC5669568.
  • De Ravin SS, Li L, Wu X, Choi U, Allen C, Koontz S, Lee J, Theobald-Whiting N,Chu J, Garofalo M, Sweeney C, Kardava L, Moir S, Viley A, Natarajan P, Su L,Kuhns D, Zarember KA, Peshwa MV, Malech HL. CRISPR-Cas9 gene repair ofhematopoietic stem cells from patients with X-linked chronic granulomatousdisease. Sci Transl Med. 2017 Jan 11;9(372). pii: eaah3480. doi:10.1126/scitranslmed.aah3480. PubMed PMID: 28077679.
  • Reinert LS, Lopušná K, Winther H, Sun C, Thomsen MK, Nandakumar R, MogensenTH, Meyer M, Vægter C, Nyengaard JR, Fitzgerald KA, Paludan SR. Sensing of HSV-1 by the cGAS-STING pathway in microglia orchestrates antiviral defence in the CNS.Nat Commun. 2016 Nov 10;7:13348. doi: 10.1038/ncomms13348. PubMed PMID: 27830700;PubMed Central PMCID: PMC5109551.
  • Dever DP, Bak RO, Reinisch A, Camarena J, Washington G, Nicolas CE, Pavel-DinuM, Saxena N, Wilkens AB, Mantri S, Uchida N, Hendel A, Narla A, Majeti R,Weinberg KI, Porteus MH. CRISPR/Cas9 β-globin gene targeting in humanhaematopoietic stem cells. Nature. 2016 Nov 17;539(7629):384-389. doi:10.1038/nature20134. Epub 2016 Nov 7. PubMed PMID: 27820943; PubMed CentralPMCID: PMC5898607.
  • DeWitt MA, Magis W, Bray NL, Wang T, Berman JR, Urbinati F, Heo SJ, Mitros T, Muñoz DP, Boffelli D, Kohn DB, Walters MC, Carroll D, Martin DI, Corn JE.Selection-free genome editing of the sickle mutation in human adult hematopoieticstem/progenitor cells. Sci Transl Med. 2016 Oct 12;8(360):360ra134. PubMed PMID: 27733558; PubMed Central PMCID: PMC5500303.
  • Jørgensen SE, Bøttger P, Kofod-Olsen E, Holm M, Mørk N, Ørntoft TF, Sørensen UBS, Bernth-Jensen JM, Herlin T, Veirum J, Larsen CS, Østergaard L, Hartmann R,Christiansen M, Mogensen TH. Ectodermal dysplasia with immunodeficiency caused bya branch-point mutation in IKBKG/NEMO. J Allergy Clin Immunol. 2016Dec;138(6):1706-1709.e4. doi: 10.1016/j.jaci.2016.05.030. Epub 2016 Jun 29.PubMed PMID: 27477329.
  • Andersen LL, Mørk N, Reinert LS, Kofod-Olsen E, Narita R, Jørgensen SE,Skipper KA, Höning K, Gad HH, Østergaard L, Ørntoft TF, Hornung V, Paludan SR,Mikkelsen JG, Fujita T, Christiansen M, Hartmann R, Mogensen TH. Functional IRF3 deficiency in a patient with herpes simplex encephalitis. J Exp Med. 2015 Aug24;212(9):1371-9. doi: 10.1084/jem.20142274. Epub 2015 Jul 27. PubMed PMID:26216125; PubMed Central PMCID: PMC4548062.

Revised 11.04.2023