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@ARTICLE{Lansing:163482,
      author       = {Lansing, Felix and Mukhametzyanova, Liliya and
                      Rojo-Romanos, Teresa and Iwasawa, Kentaro and Kimura, Masaki
                      and Paszkowski-Rogacz, Maciej and Karpinski, Janet and
                      Grass, Tobias and Sonntag, Jan and Schneider, Paul Martin
                      and Günes, Ceren and Hoersten, Jenna and Schmitt, Lukas
                      Theo and Rodriguez-Muela, Natalia and Knöfler, Ralf and
                      Takebe, Takanori and Buchholz, Frank},
      title        = {{C}orrection of a {F}actor {VIII} genomic inversion with
                      designer-recombinases.},
      journal      = {Nature Communications},
      volume       = {13},
      number       = {1},
      issn         = {2041-1723},
      address      = {[London]},
      publisher    = {Nature Publishing Group UK},
      reportid     = {DZNE-2022-00242},
      pages        = {422},
      year         = {2022},
      abstract     = {Despite advances in nuclease-based genome editing
                      technologies, correcting human disease-causing genomic
                      inversions remains a challenge. Here, we describe the
                      potential use of a recombinase-based system to correct the
                      140 kb inversion of the F8 gene frequently found in patients
                      diagnosed with severe Hemophilia A. Employing
                      substrate-linked directed molecular evolution, we develop a
                      coupled heterodimeric recombinase system (RecF8) achieving
                      $30\%$ inversion of the target sequence in human tissue
                      culture cells. Transient RecF8 treatment of endothelial
                      cells, differentiated from patient-derived induced
                      pluripotent stem cells (iPSCs) of a hemophilic donor,
                      results in $12\%$ correction of the inversion and restores
                      Factor VIII mRNA expression. In this work, we present
                      designer-recombinases as an efficient and specific means
                      towards treatment of monogenic diseases caused by large gene
                      inversions.},
      keywords     = {Amino Acid Sequence / Base Sequence / Cell Differentiation
                      / Chromosome Inversion: genetics / Clone Cells / Directed
                      Molecular Evolution / Endothelial Cells: cytology /
                      Endothelial Cells: metabolism / Exons: genetics / Factor
                      VIII: genetics / HEK293 Cells / HeLa Cells / Humans /
                      Induced Pluripotent Stem Cells: metabolism / Inverted Repeat
                      Sequences: genetics / Recombinases: metabolism /
                      Recombination, Genetic: genetics / Substrate Specificity /
                      Whole Genome Sequencing / Recombinases (NLM Chemicals) /
                      Factor VIII (NLM Chemicals)},
      cin          = {AG Rodriguez-Muela},
      ddc          = {500},
      cid          = {I:(DE-2719)1713001},
      pnm          = {352 - Disease Mechanisms (POF4-352)},
      pid          = {G:(DE-HGF)POF4-352},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:35058465},
      pmc          = {pmc:PMC8776779},
      doi          = {10.1038/s41467-022-28080-7},
      url          = {https://pub.dzne.de/record/163482},
}