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Article

A patient-derived olfactory stem cell disease model for ataxia-telangiectasia.

Human molecular genetics - 15 Jun 2013

Stewart Romal, Kozlov Sergei, Matigian Nicholas, Wali Gautam, Gatei Magtouf, Sutharsan Ratneswary, Bellette Bernadette, Wraith-Kijas Amanda, Cochrane Julie, Coulthard Mark, Perry Chris, Sinclair Kate, Mackay-Sim Alan, Lavin Martin F

Abstract excerpt

The autosomal recessive disorder ataxia-telangiectasia (A-T) is characterized by genome instability, cancer predisposition and neurodegeneration. Although the role of ataxia-telangiectasia mutated (ATM) protein, the protein defective in this syndrome, is well described in the response to DNA damage, its role in protecting the nervous system is less clear. We describe the establishment and characterization of...

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PMID: 23474819
DOI: 10.1093/hmg/ddt101

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ATM

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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