|
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 |
GeneticVariation
|
disease |
BEFREE |
Overall these data suggest that other factors besides the specific OAT genotype modulate (GA) phenotype in patients.
|
23076989 |
2013 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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 |
AlteredExpression
|
disease |
BEFREE |
Gyrate atrophy of the choroid and retina: lymphocyte ornithine-delta-aminotransferase activity in different mutations and carriers.
|
9727717 |
1998 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We discovered the missense mutation, A226V, in the ornithine-delta-aminotransferase (OAT) genes of two unrelated patients with gyrate atrophy of the choroid and retina (GA).
|
7887415 |
1995 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
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 |
GeneticVariation
|
disease |
BEFREE |
Previously, we and others have reported a number of missense mutations and splice defects in the OAT gene associated with GA.
|
1301936 |
1992 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We identified a novel, deleterious, homologous ornithine aminotransferase (<i>OAT</i>) variant, c.G248A: p.S83N, which contributes to the progression of GACR in patients.
|
30366948 |
2019 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a rare case of vitamin B6-responsive GA caused by a novel mutation in OAT and characterize the presentation with multimodal imaging.
|
29757052 |
2018 |
|
Gyrate Atrophy
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Gyrate atrophy of the choroid and retina (GACR) is a rare chorioretinal dystrophy characterized by a deficiency of the enzyme ornithine aminotransferase, inherited in an autosomal recessive pattern.
|
28708224 |
2017 |
|
Gyrate Atrophy
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The data show that overexpression of OAT in keratinocytes cultured from a gyrate atrophy patient restores ornithine metabolism and results in a rate of ornithine disappearance from the medium that is significantly higher than the rate of disappearance from the medium bathing normal keratinocytes.
|
9415309 |
1997 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our findings, combined with recent molecular studies, indicate that human OAT probes specific for chromosome 10 will be useful for the diagnosis and genetic counseling of individuals at risk for gyrate atrophy.
|
3195589 |
1988 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
R180T variant of δ-ornithine aminotransferase associated with gyrate atrophy: biochemical, computational, X-ray and NMR studies provide insight into its catalytic features.
|
30957963 |
2019 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Similar results were observed for two nonsense mutations in the gene encoding ornithine delta-aminotransferase from patients with gyrate atrophy.
|
8430317 |
1993 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These data firmly establish that both pyridoxine responsive and nonresponsive forms of GA result from mutations in the OATase structural gene.
|
3375240 |
1988 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The results indicate that the mutant OAT precursor from the gyrate atrophy patient can be transported to the mitochondria but is minimally processed there, which would lead to degradation of the labile precursor and loss of OAT activity as phenotypically observed.
|
2793865 |
1989 |
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
BEFREE |
OAT-deficient mice appear to be an excellent model of human GA.
|
7550347 |
1995 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two clinical subtypes of gyrate atrophy (GA) have been defined based on in vivo or in vitro evidence of response to vitamin B6 (pyridoxine), which is the cofactor of the enzyme ornithine aminotransferase (OAT) shown to be defective in GA. We identified the E318K mutation in the OAT gene, heterozygously in three patients and homozygously in one patient, all of whom were vitamin B6-responsive by previous in vivo and in vitro studies.
|
10617919 |
1999 |