|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Using a combination of RNase A protection, genomic cloning, and polymerase chain reaction amplification of genomic DNA, we found one of two missense mutant OAT alleles to be present in each of 16 Finnish GA pedigrees.
|
2492100 |
1989 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two sisters with GA are described in this study in whom an A-to-G substitution at the 3' splice acceptor site of intron 4 in one allele of the OAT gene results in a truncated OAT mRNA devoid of exon 5 sequence.
|
1487247 |
1992 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Gyrate atrophy (GA) of the choroid and retina is an autosomal recessive chorioretinal degeneration, caused by deficiency of the mitochondrial matrix enzyme ornithine-delta-aminotransferase (OAT).
|
7712330 |
1995 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here we report a GA patient of Danish/Swedish ancestry in whom one OAT allele produces an mRNA that is missing a single 96-bp exon relative to the normal mRNA.
|
2220818 |
1990 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Ophthalmologic heterogeneity in subjects with gyrate atrophy of choroid and retina harboring the L402P mutation of ornithine aminotransferase.
|
11297489 |
2001 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
In extracts of fibroblasts from a second GA patient homozygous for A226V and from Chinese hamster ovary cells expressing an OAT-cDNA-containing A226V, we found that OAT activity increased from undetectable levels to approximately 10% of normal when the concentration of pyridoxal phosphate was increased from 50 to 600 microM.
|
7887415 |
1995 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Reproducing these mutations by site-directed mutagenesis and expressing the mutant ornithine delta-aminotransferase in Chinese hamster ovary cells confirms that several of these mutations inactivate ornithine delta-aminotransferase and cause gyrate atrophy in these patients.
|
1737786 |
1992 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Gyrate atrophy of the choroid and retina: characterization of mutant ornithine aminotransferase and mechanism of response to vitamin B6.
|
2916580 |
1989 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Gyrate atrophy of the choroid and retina is a rare autosomal recessive condition characterized by chorioretinal atrophy due to deficiency of the enzyme ornithine aminotransferase that can be complicated by intraretinal cystic spaces.
|
30335551 |
2018 |
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
CLINGEN |
To study the molecular basis of the mutations causing GA, we cloned and sequenced the human OAT cDNA and determined the intron-exon arrangement of the structural gene.
|
3339136 |
1988 |
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
BEFREE |
The authors previously reported ornithine cytotoxicity in ornithine-δ-aminotransferase (OAT)-deficient human retinal pigment epithelial (RPE) cells as an in vitro model of gyrate atrophy of the choroid and retina (GA).
|
20811048 |
2011 |
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
MGD |
Deficiency of ornithine-delta-aminotransferase (OAT) in humans results in gyrate atrophy of the choroid and retina (GA), an autosomal recessive disorder characterized by ornithine accumulation and a progressive chorioretinal degeneration of unknown pathogenesis.
|
10655512 |
2000 |
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
BEFREE |
A gyrate atrophy-like phenotype can result from causes other than deficient ornithine-delta-aminotransferase.
|
9355188 |
1997 |
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
BEFREE |
The RFLPs for OAT are potentially applicable to prenatal diagnosis and carrier detection in families with a previous history of GA.
|
2893548 |
1988 |
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Using a combination of RNase A protection, genomic cloning, and polymerase chain reaction amplification of genomic DNA, we found one of two missense mutant OAT alleles to be present in each of 16 Finnish GA pedigrees.
|
2492100 |
1989 |
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
CLINGEN |
By using the CRISPR/Cas9 technology we generated a new cellular model of GA based on HEK293 cells knock-out for the OAT gene (HEK-OAT_KO).
|
30251682 |
2018 |
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Finally, we found that 5-aminoimidazole-4-carboxamide ribonucleoside (AICAR), an AMPK activator known to increase mitochondrial biogenesis, markedly stimulates OAT expression, thus representing a possible treatment for a subset of GA patients with hypomorphic alleles.
|
23076989 |
2013 |
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
BEFREE |
We measured L-ornithine oxidation in cultured skin fibroblasts from seven patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria (HHH) syndrome (McKusick 23897), and compared it with oxidation by ornithine aminotransferase deficient gyrate atrophy (McKusick 25887) cells and lysinuric protein intolerance (McKusick 22270) cells in which there is an ornithine transport abnormality at the plasma membrane.
|
2501580 |
1989 |
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Using the combined techniques of PCR, denaturing gradient gel electrophoresis, and direct sequencing, we have identified three nonsense-codon mutations and one nonsense codon-generating mutation of the OAT gene in GA pedigrees.
|
1609808 |
1992 |
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
BEFREE |
We have described previously a GA patient with a 5.0-kilobase pair truncated EcoRI OAT gene fragment and the absence of OAT mRNA on Northern blot analysis.
|
1618792 |
1992 |
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
BEFREE |
The finding of an OAT gene, mRNA, and protein defect in a GA case constitutes the first real demonstration of the molecular genetic defect of OAT in GA.
|
3417397 |
1988 |
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
BEFREE |
Ornithine aminotransferase (OAT) deficiency (MIM: 258870) is a rare congenital metabolic disorder characterized by gyrate atrophy of the choroid and retina.
|
15750329 |
2005 |
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
BEFREE |
Retrovirus-mediated gene transfer of ornithine-delta-aminotransferase into keratinocytes from gyrate atrophy patients.
|
9414260 |
1997 |
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
MGD |
The retarded hair growth (rhg) mutation in mice is an allele of ornithine aminotransferase (Oat).
|
25264521 |
2014 |