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Article

Reduced levels of MRE11 cause disease phenotypes distinct from ataxia telangiectasia-like disorder.

Human molecular genetics - 3 Sept 2024

Hartlerode Andrea J, Mostafa Ahmed M, Orban Steven K, Benedeck Rachel, Campbell Koral, Hoenerhoff Mark J, Ferguson David O, Sekiguchi JoAnn M

Abstract excerpt

The MRE11/RAD50/NBS1 (MRN) complex plays critical roles in cellular responses to DNA double-strand breaks. MRN is involved in end binding and processing, and it also induces cell cycle checkpoints by activating the ataxia-telangiectasia mutated (ATM) protein kinase. Hypomorphic pathogenic variants in the MRE11, RAD50, or NBS1 genes cause autosomal recessive genome instability syndromes featuring variable degrees...

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Identifiers

PMID: 38888340
DOI: 10.1093/hmg/ddae101
PMCID: PMC11373340

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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