Case report: wide spectrum of manifestations of ligase iv deficiency: report of 3 cases

HIGHLIGHTS

  • who: Ana Costa e Castro from the em Sauu0301de, Porto, Portugal, Comprehensive Health Research Centre (CHRC), NOVA Medical School, Nova University of Lisbon, Ege University, Turkey have published the paper: Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases, in the Journal: (JOURNAL)

SUMMARY

    The resulting DNA ends are recognized and resolved by the proteins of the NHEJ pathway: DNA ends are stabilized by a Ku70/Ku80 heterodimer, allowing the recruitment of the DNA-PK catalytic subunit (DNAPKcs) and activation of Artemis, which opens the hairpin-sealed DNA . . .

     

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