Publications by authors named "K Lipson-Ruffert"

Article Synopsis
  • The repair of DNA double-stranded breaks via non-homologous end joining (NHEJ) is essential for developing the brain and immune system in mice.
  • Mice lacking either Xlf or PAXX can survive, showing mild immune changes, but are sensitive to radiation exposure, indicating these factors help in NHEJ.
  • However, mice missing both Xlf and PAXX die during embryonic development due to severe neuron death and show significant impairment in B- and T-cell maturation, underscoring the critical role of both factors in NHEJ during development.
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Artemis is a factor of the non-homologous end joining pathway involved in DNA double-strand break repair that has a critical role in V(D)J recombination. Mutations in DCLRE1C/ARTEMIS gene result in radiosensitive severe combined immunodeficiency in humans owing to a lack of mature T and B cells. Given the known drawbacks of allogeneic hematopoietic stem cell transplantation (HSCT), gene therapy appears as a promising alternative for these patients.

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