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Article

Identification of the interactors of human nibrin (NBN) and of its 26 kDa and 70 kDa fragments arising from the NBN 657del5 founder mutation.

PloS one - 1 Jan 2014

Cilli Domenica, Mirasole Cristiana, Pennisi Rosa, Pallotta Valeria, D'Alessandro Angelo, Antoccia Antonio, Zolla Lello, Ascenzi Paolo, di Masi Alessandra

Abstract excerpt

Nibrin (also named NBN or NBS1) is a component of the MRE11/RAD50/NBN complex, which is involved in early steps of DNA double strand breaks sensing and repair. Mutations within the NBN gene are responsible for the Nijmegen breakage syndrome (NBS). The 90% of NBS patients are homozygous for the 657del5 mutation, which determines the synthesis of two truncated proteins of 26 kDa (p26) and 70 kDa (p70). Here, HEK293...

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Share to DNA Breaks, Double-Stranded
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization

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Source

Open in PubMed Open full text

Identifiers

PMID: 25485873
DOI: 10.1371/journal.pone.0114651
PMCID: PMC4259352

Genes

NBN
PARP1
MRE11
RAD50
SDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Identification of the interactors of human nibrin (NBN) and of its 26 kDa and 70 kDa fragments arising from the NBN 657del5 founder mutation.PMID 25485873Read ↗

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