Article

Ataxia Telangiectasia patient-derived neuronal and brain organoid models reveal mitochondrial dysfunction and oxidative stress

2024-01-30

Abstract excerpt

Ataxia Telangiectasia (AT) is a rare genetic disorder caused by mutations in the ATM gene and is characterized by oxidative stress, premature ageing, and progressive neurodegeneration of the cerebellum. The molecular mechanisms driving the neurological defects AT remain unclear, mainly due to lack of human neuronal models. Here, we use AT patient-derived pluripotent stem cells (iPSCs) and iPSC-derived neurons and...

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Literature Corpus work: c042b239-5231-5596-8acc-038404139a51
DOI: 10.1101/2024.01.29.577683

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