Article
A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.
The Journal of clinical investigation - 1 Jan 2009
van der Burg Mirjam, Ijspeert Hanna, Verkaik Nicole S, Turul Tuba, Wiegant Wouter W, Morotomi-Yano Keiko, Mari Pierre-Olivier, Tezcan Ilhan, Chen David J, Zdzienicka Malgorzata Z, van Dongen Jacques J M, van Gent Dik C
Abstract excerpt
Radiosensitive T-B- severe combined immunodeficiency (RS-SCID) is caused by defects in the nonhomologous end-joining (NHEJ) DNA repair pathway, which results in failure of functional V(D)J recombination. Here we have identified the first human RS-SCID patient to our knowledge with a DNA-PKcs missense mutation (L3062R). The causative mutation did not affect the kinase activity or DNA end-binding capacity of...
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