Human RAD50 deficiency is an autosomal recessive syndrome that has been reported in patients with microcephaly and short stature. Their clinical phenotype resembled Nijmegen Breakage …

Mar 26, 2025 · The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex …

Mar 30, 2025 · RAD50 (RAD50 Double Strand Break Repair Protein) is a Protein Coding gene. Diseases associated with RAD50 include Nijmegen Breakage Syndrome-Like Disorder and …

The SMC family member Rad50, in complex with Mre11 and Nbs1, is a required component of DSB repair. Here we introduce the DNA repair functions of Rad50-containing complexes and …

We find that double-stranded DNA stimulates ATP hydrolysis by hMRN over ∼20-fold in an end-dependent manner. Using catalytic site mutants to create Rad50 dimers with only one …

Rad50 is a DNA repair protein that is encoded by the RAD50 gene in humans. It is involved in DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and …

Electron microscopy, small-angle x-ray scattering, and ultracentrifugation data of human and P. furiosus MRE11/RAD50 complex revealed a dual functional complex consisting of a …

Jun 23, 2000 · To clarify the key role of Rad50 in DNA double-strand break repair (DSBR), we biochemically and structurally characterized ATP-bound and ATP-free Rad50 catalytic domain …

RAD50 provides an ATP-dependent control of MRE11 by positioning DNA ends into the MRE11 active site: ATP-binding induces a large structural change from an open form with accessible …

Feb 2, 2017 · Here, we report a long‐term follow‐up of an unrelated patient with facial dysmorphisms, microcephaly, skeletal features, and short stature who is homozygous for a …