Article
Expression of a large coding sequence: Gene therapy vectors for Ataxia Telangiectasia.
Scientific reports - 8 Nov 2023
Hirch Tanja, Brander Nadine, Schenk Franziska, Pöllmann Simon J, Reichenbach Janine, Schubert Ralf, Modlich Ute
Abstract excerpt
Ataxia telangiectasia is a monogenetic disorder caused by mutations in the ATM gene. Its encoded protein kinase ATM plays a fundamental role in DNA repair of double strand breaks (DSBs). Impaired function of this kinase leads to a multisystemic disorder including immunodeficiency, progressive cerebellar degeneration, radiation sensitivity, dilated blood vessels, premature aging and a predisposition to cancer....
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