Article

Finnish gyrate atrophy mutation OAT;c.1205C>T leads to accumulation of intracellular GABA

2024-05-13

Abstract excerpt

Hyperornithinaemia with gyrate atrophy of choroid and retina (HOGA) is a recessive metabolic disease caused by dysfunction of the ornithine aminotransferase (OAT) gene, leading to ornithine accumulation and a complex metabolic imbalance. This causes retinal degeneration that ultimately evolve to blindness. However, the mechanisms of this degeneration remain unknown. Here, we have conducted untargeted metabolomic a...

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Literature Corpus work: 2634fe0c-39ee-5160-84e1-75a5bd35aeea
DOI: 10.1101/2024.05.13.593857

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