Recent Advances in Therapy for the Neurodegenerative Disorder Ataxia-Telangiectasia.

doi:10.3390/ijms27167347

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Article

Recent Advances in Therapy for the Neurodegenerative Disorder Ataxia-Telangiectasia.

International journal of molecular sciences - 17 Aug 2026

Nayler Sam, Foster Simon, Lavin Martin, Coman David

Abstract excerpt

At present, there is no cure for the human genetic disorder ataxia-telangiectasia (A-T), which is managed by supportive care. This disorder arises due to mutations in the ATM (ataxia-telangiectasia mutated) gene and is characterised by a defect in the response to DNA damage, oxidative stress, mitochondrial dysfunction and immune deficiency. The ATM protein is activated by DNA damage, reactive oxygen species...

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PMID: 42653351
DOI: 10.3390/ijms27167347
PMCID: PMC13512938

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