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Citron Kinase Deficiency Leads to Chromosomal Instability and TP53-Sensitive Microcephaly

1 Feb 2017

Abstract excerpt

Mutations in citron (CIT), leading to loss or inactivation of the citron kinase protein (CITK), cause primary microcephaly in humans and rodents, associated with cytokinesis failure and apoptosis in neural progenitors. We show that CITK loss induces DNA damage accumulation and chromosomal instability in both mammals and Drosophila. CITK-deficient cells display "spontaneous" DNA damage, increased sensitivity to...

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PMID: 28199840
DOI: 10.1016/j.celrep.2017.01.054

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