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Article

An essential function for NBS1 in the prevention of ataxia and cerebellar defects.

Nature medicine - 1 May 2005

Frappart Pierre-Olivier, Tong Wei-Min, Demuth Ilja, Radovanovic Ivan, Herceg Zdenko, Aguzzi Adriano, Digweed Martin, Wang Zhao-Qi

Abstract excerpt

Nijmegen breakage syndrome (NBS), ataxia telangiectasia and ataxia telangiectasia-like disorder (ATLD) show overlapping phenotypes such as growth retardation, microcephaly, cerebellar developmental defects and ataxia. However, the molecular pathogenesis of these neurological defects remains elusive. Here we show that inactivation of the Nbn gene (also known as Nbs1) in mouse neural tissues results in a...

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Source

Identifiers

PMID: 15821748
DOI: 10.1038/nm1228

Genes

ATM

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.

Related research

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Click a neighbor to travelStep 1 · 12 closest

An essential function for NBS1 in the prevention of ataxia and cerebellar defects.PMID 15821748Read ↗

A distinct response to endogenous DNA damage in the development of Nbs1-deficient cortical neuronsSemantic proximity Read ↗

Investigation of the functional link between ATM and NBS1 in the DNA damage response in the mouse cerebellum.Semantic proximity Read ↗

Nbn and atm cooperate in a tissue and developmental stage-specific manner to prevent double strand breaks and apoptosis in developing brain and eye.Semantic proximity Read ↗

NBS1, the Nijmegen breakage syndrome gene product, regulates neuronal proliferation and differentiation.Semantic proximity Read ↗

Differential DNA damage signaling accounts for distinct neural apoptotic responses in ATLD and NBS.Semantic proximity Read ↗

Conditional inactivation of the NBS1 gene in the mouse central nervous system leads to neurodegeneration and disorganization of the visual system.Semantic proximity Read ↗

Role of Nbs1 in the activation of the Atm kinase revealed in humanized mouse models.Semantic proximity Read ↗

Impaired p53-mediated DNA damage response contributes to microcephaly in Nijmegen Breakage Syndrome patient-derived cerebral organoidsSemantic proximity Read ↗

The NBS1-ATM Connection RevisitedSemantic proximity Read ↗

NBS1 and its functional role in the DNA damage response.Semantic proximity Read ↗

Dual functions of Nbs1 in the repair of DNA breaks and proliferation ensure proper V(D)J recombination and T-cell development.Semantic proximity Read ↗

A murine model of Nijmegen breakage syndrome.Semantic proximity Read ↗

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