Article

Adaptive protein synthesis in genetic models of copper deficiency and childhood neurodegeneration

2024-09-12

Abstract excerpt

Rare inherited diseases caused by mutations in the copper transporters SLC31A1 (CTR1) or ATP7A induce copper deficiency in the brain, causing seizures and neurodegeneration in infancy through poorly understood mechanisms. Here, we used multiple model systems to characterize the molecular mechanisms by which neuronal cells respond to copper deficiency. Targeted deletion of CTR1 in neuroblastoma cells produced cop...

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Literature Corpus work: 897a6b09-8ec7-50ff-8ada-36b222511130
DOI: 10.1101/2024.09.09.612106

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