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Article

Reversible mislocalization of a disease-associated MRE11 splice variant product.

Scientific reports - 4 Jul 2018

Hartlerode Andrea J, Regal Joshua A, Ferguson David O

Abstract excerpt

Ataxia-telangiectasia (AT) and related disorders feature cancer predisposition, neurodegeneration, and immunodeficiency resulting from failure to respond to DNA damage. Hypomorphic mutations in MRE11 cause an AT-like disorder (ATLD) with variable clinical presentation. We have sought to understand how diverse MRE11 mutations may provide unique therapeutic opportunities, and potentially correlate with clinical...

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Source

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Identifiers

PMID: 29973640
DOI: 10.1038/s41598-018-28370-5
PMCID: PMC6031676

Genes

MRE11

Provenance

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