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Article

Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.

The Journal of biological chemistry - 15 Feb 1992

Brody L C, Mitchell G A, Obie C, Michaud J, Steel G, Fontaine G, Robert M F, Sipila I, Kaiser-Kupfer M, Valle D

Abstract excerpt

Ornithine delta-aminotransferase is a nuclear-encoded mitochondrial matrix enzyme which catalyzes the reversible interconversion of ornithine and alpha-ketoglutarate to glutamate semialdehyde and glutamate. Inherited deficiency of ornithine delta-aminotransferase results in ornithine accumulation and a characteristic chorioretinal degeneration, gyrate atrophy of the choroid and retina. We have surveyed the...

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Identifiers

PMID: 1737786

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.PMID 1737786Read ↗

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A single-base change at a splice acceptor site in the ornithine aminotransferase gene causes abnormal RNA splicing in gyrate atrophy.Semantic proximity Read ↗

Current Insight into Human Ornithine Aminotransferase: A Review.Semantic proximity Read ↗

Three novel mutations of the ornithine aminotransferase (OAT) gene in gyrate atrophy.Semantic proximity Read ↗

Gyrate atrophy of the choroid and retina diagnosed by ornithine-δ-aminotransferase gene analysis: a case report.Semantic proximity Read ↗

Heterogeneity and uniqueness of ornithine aminotransferase mutations found in Japanese gyrate atrophy patients.Semantic proximity Read ↗

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