Article

Processing of Mammalian Episomal Substrates by Hypomorphic Artemis Mutants and Role of DNA-PKcs Phosphorylation

2026-03-30

Abstract excerpt

<h4>Background: </h4> Inherited hypomorphic Artemis alleles have been identified in patients that cause combined immunodeficiency syndromes of varying severity. Characteristically, these are premature translation termination mutants (D451X, T432X, S385X; where X represents stop codon) resulting in either full or partial loss of C terminus. Functional evidence exists, suggesting a role of these hypomorphic mutants...

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Literature Corpus work: f5873b8f-372d-5bbd-af28-0ad40930647f
DOI: 10.20944/preprints202603.2331.v1

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