|
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 |
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 |
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 |
UNIPROT |
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 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
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 |
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 |
GeneticVariation
|
disease |
UNIPROT |
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 |
GeneticVariation
|
disease |
UNIPROT |
Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.
|
1612597 |
1992 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
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 |
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 |
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 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Because mutations in the OAT gene show a high degree of molecular heterogeneity in GA, the authors set out to determine the mutations by rapid and efficient methods.
|
8125717 |
1994 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Exon scanning of the ornithine aminotransferase gene in a gyrate atrophy patient detected and localized a mutation in the sixth exon.
|
2276738 |
1990 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina.
|
3339136 |
1988 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
It is interesting that, although the mutation site (Q90E) in this GACR patient's OAT was within the coding sequence of the mature protein, the precursor exhibited loss of mitochondrial targeting function.
|
7668253 |
1995 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Inheritance of ornithine aminotransferase gene, mRNA, and enzyme defect in a family with gyrate atrophy of the choroid and retina.
|
2916581 |
1989 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We isolated iPS cells free of transgene sequences from a patient with gyrate atrophy caused by a point mutation in the gene encoding ornithine-δ-aminotransferase (OAT) and used homologous recombination to correct the genetic defect.
|
21464322 |
2011 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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 heterogeneity.
|
8670789 |
1996 |