Article

Differential expression of a disease-associated <i>MRE11</i> variant reveals distinct phenotypic outcomes

2025-07-18

Abstract excerpt

The MRE11 DNA nuclease plays central roles in the repair of DNA double-strand breaks (DSBs) as a core component of the heterotrimeric MRE11/RAD50/NBS1 (MRN) complex. MRN localizes to chromosomal DSBs and recruits and activates the apical DSB repair protein kinase, ATM, which phosphorylates downstream substrates to elicit cellular DNA damage responses. Pathogenic variants in MRE11 cause the genome instability diso...

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Literature Corpus work: 75f3a8ca-948d-50c6-84e1-6448c2df72e9
DOI: 10.1101/2025.07.15.664809

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