ornithine/atrofia

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Ornithine-delta-aminotransferase expression and ornithine metabolism in cultured epidermal keratinocytes: toward metabolic sink therapy for gyrate atrophy.

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There is now strong evidence that the chorioretinal degeneration associated with ornithine-delta-aminotransferase (OAT) deficiency is a consequence of hyperornithinemia. Therefore development of a metabolic system for clearing ornithine from the circulation is being pursued as a potential treatment.

[Retinal degeneration after intravitreal injection of ornithine. 2. Late change after administration].

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The influence of intravitreal injection of a small amount of l-ornithine hydrochloride in monkey eyes has been investigated morphologically. In a previous paper, the author demonstrated that acute selective damage was caused in the retinal pigment epithelium (RPE) by ornithine. This paper will

The response of ornithine decarboxylase during neuronal degeneration and regeneration in olfactory epithelium.

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Mature olfactory neurons are continually replaced from a population of progenitor cells. Olfactory nerve section, bulbectomy, or treatment with certain chemicals induces degeneration of olfactory neurons followed in some cases by regeneration. Ornithine decarboxylase (ODC) activity was measured in

Gyrate atrophy-like phenotype with normal plasma ornithine and low plasma taurine.

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We present the case of a 39-year-old male with sectoral chorioretinal atrophy similar to that seen in gyrate atrophy (GA) but with a normal plasma ornithine level. Unlike previously reported cases of GA, he had below-normal plasma taurine concentration. Much remains unknown about the

Gyrate atrophy of the retina and choroid is an inborn error of metabolism of ornithine aminotransferase.

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Gyrate atrophy of the retina and choroid is an autosomal recessive progressive retinal degeneration caused by an inborn error of metabolism of ornithine aminotransferase activity. Some cases are metabolically treatable. Carrier testing and prenatal diagnosis by amniocentesis are possible.

Gyrate atrophy of the choroid and retina: decreased ornithine aminotransferase concentration in cultured skin fibroblasts from patients.

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A sensitive and convenient radioisotopic assay for ornithine aminotransferase (OAT) and an enzyme immunoassay for human ornithine aminotransferase were developed for studying decrease in activity of this enzyme in gyrate atrophy of the choroid and retina with hyperornithinemia. Picogram amounts of

Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.

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Gyrate atrophy (GA), a recessive eye disease involving progressive vision loss due to chorioretinal degeneration, is associated with the deficiency of the mitochondrial enzyme ornithine aminotransferase (OAT), with consequent hyperornithinemia. We and others have reported a number of missense

Expression defect of ornithine aminotransferase gene in gyrate atrophy.

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A generalized deficiency in the mitochondrial enzyme, ornithine aminotransferase (OAT: EC 2.6.1.13), is the hallmark of gyrate atrophy (GA), a hereditary degenerative disease of the choroid and retina of the eye that leads to blindness. A human OAT cDNA, previously constructed and characterized in

Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase.

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Gyrate atrophy of the choroid and retina is an autosomal recessive disease associated with reduced or absent ornithine aminotransferase (OAT) activity. To approach the defect in OAT at the molecular level, we have cloned a cDNA for the mRNA encoding the OAT precursor from human liver. The clone

The ornithine aminotransferase (OAT) locus: analysis of RFLPs in gyrate atrophy.

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A cDNA probe (HOAT1) for ornithine aminotransferase (OAT) has recently been used to map (1) the structural gene for this enzyme to chromosome 10 and (2) several related DNA sequences to the X chromosome. We have defined six RFLPs for OAT, to explore its possible role in gyrate atrophy (GA) of the

Heterogeneity and uniqueness of ornithine aminotransferase mutations found in Japanese gyrate atrophy patients.

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OBJECTIVE To identify mutations in ornithine aminotransferase (OAT) in seven Japanese families with gyrate atrophy (GA), an autosomal recessive chorioretinal degeneration of the eye caused by a generalized biochemical deficiency in OAT; mutations in the OAT gene have shown a high degree of molecular

A deletion in the ornithine aminotransferase gene in gyrate atrophy.

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Gyrate atrophy (GA) is an autosomal recessive chorioretinal degenerative disease of the eye caused by an inborn defect of the nuclear encoded mitochondrial enzyme ornithine aminotransferase (OAT). We have described previously a GA patient with a 5.0-kilobase pair truncated EcoRI OAT gene fragment

Pyridoxine effects on ornithine ketoacid transaminase activity in fibroblasts from carriers of two forms of gyrate atrophy of the choroid and retina.

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Gyrate atrophy of the choroid and retina that is due to ornithine ketoacid transaminase (OKT) deficiency is an autosomal recessive disorder. Fibroblasts from heterozygotes for the pyridoxine-responsive variant as well as those for the pyridoxine-nonresponsive variant contain intermediate levels of

Expression of human ornithine aminotransferase (OAT) in OAT-deficient Chinese hamster ovary cells and fibroblasts of gyrate atrophy patient.

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Gyrate atrophy is a hereditary chorioretinal degenerative disease caused by a deficiency of the mitochondrial enzyme, ornithine aminotransferase (OAT). Recent investigations have demonstrated the molecular genetic defects of OAT in gyrate atrophy patients. We constructed a eukaryotic expression

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

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Gyrate atrophy (GA) is an autosomal recessive eye disease involving a progressive loss of vision due to chorioretinal degeneration in which the mitochondrial matrix enzyme ornithine aminotransferase (OAT) is defective. Two sisters with GA are described in this study in whom an A-to-G substitution at

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