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- W2499235038 abstract "Ataxia telangiectasia (A-T) is a rare autosomal recessive disorder that results from the absence of the hierarchical ATM serine/threonine protein kinase and its failure to phosphorylate over 600 downstream proteins that play critical roles in the recognition and repair of double-strand DNA breaks, cell cycling, apoptosis, DNA maintenance and processing, and mitochondrial function. This manifests primarily as a progressive cerebellar impairment of equilibrium, movement and cognition, ovarian insufficiency, an increased susceptibility to malignancies, characteristic chromosomal translocations and a hypersensitivity to ionizing radiation. This form of ataxia was first described in 1926 in association with ocular telangiectasia. It was rediscovered in 1957 as a unique entity with three main features: progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infections. Seven years later, A-T was recognized as a primary immunodeficiency disease (PIDD), although ATM’s role in VDJ recombination and DNA rearrangements during lymphoid development and function has only recently been established. In 1988, the gene responsible for A-T was localized to chromosome 11q22-23 and, seven years later, a single causative gene was cloned and named ATM (A-T, mutated). Once the spectrum of ATM mutations had been clearly defined, a limited genotype–phenotype correlation was observed and molecular genetic approaches to mutation-targeted therapy became a possibility." @default.
- W2499235038 created "2016-08-23" @default.
- W2499235038 creator A5009429019 @default.
- W2499235038 creator A5060390908 @default.
- W2499235038 creator A5062237763 @default.
- W2499235038 creator A5082669927 @default.
- W2499235038 date "2014-01-01" @default.
- W2499235038 modified "2023-09-27" @default.
- W2499235038 title "Finally Found: The Ataxia-Telangiectasia Gene and its Function" @default.
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