Article
Conditional inactivation of the NBS1 gene in the mouse central nervous system leads to neurodegeneration and disorganization of the visual system.
Experimental neurology - 1 Jul 2009
Baranes Koby, Raz-Prag Dorit, Nitzan Anat, Galron Ronit, Ashery-Padan Ruth, Rotenstreich Ygal, Assaf Yaniv, Shiloh Yosef, Wang Zhao-Qi, Barzilai Ari, Solomon Arieh S
Abstract excerpt
Nijmegen breakage syndrome (NBS) is a genomic instability disease caused by hypomorphic mutations in the NBS1 gene encoding the Nbs1 (nibrin) protein. Nbs1 is a component of the Mre11/Rad50/Nbs1 (MRN) complex that acts as a sensor of double strand breaks (DSBs) in the DNA and is critical for proper activation of the broad cellular response to DSBs. Conditional disruption of the murine ortholog of the human NBS1,...
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