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Article

Ataxia telangiectasia: more variation at clinical and cellular levels.

Clinical genetics - 1 Mar 2015

Taylor A M R, Lam Z, Last J I, Byrd P J

Abstract excerpt

Ataxia telangiectasia (A-T) is a rare recessively inherited disorder resulting in a progressive neurological decline. It is caused by biallelic mutation of the ATM gene that encodes a 370 kDa serine/threonine protein kinase responsible for phosphorylating many target proteins. ATM is activated by auto(trans)phosphorylation in response to DNA double strand breaks and leads to the activation of cell cycle...

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Source

Identifiers

PMID: 25040471
DOI: 10.1111/cge.12453

Genes

ATM
MRE11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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