|
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 |
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 |
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 |
CLINGEN |
OAT-deficient mice appear to be an excellent model of human GA.
|
7550347 |
1995 |
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Gyrate atrophy of the choroid and retina: lymphocyte ornithine-delta-aminotransferase activity in different mutations and carriers.
|
9727717 |
1998 |
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
CLINGEN |
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 |
Biomarker
|
disease |
CLINGEN |
The purpose of this study was to report a novel deletion mutation of the OAT gene and describe clinical features of two brothers with GA in a Japanese family.
|
24429551 |
2014 |
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
CLINGEN |
The retarded hair growth (rhg) mutation in mice is an allele of ornithine aminotransferase (Oat).
|
25264521 |
2014 |
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Two continuous coupled assays for ornithine-δ-aminotransferase.
|
23747282 |
2013 |
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
CLINGEN |
The pattern of neural retina OAT mRNA expression may have important implications in determining the appropriate tissue approach in gene therapy for gyrate atrophy.
|
9815288 |
1998 |
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
CLINGEN |
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 |
GENOMICS_ENGLAND |
|
|
|
|
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 |
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 |
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 |
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
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 |
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 |
MGD |
The retarded hair growth (rhg) mutation in mice is an allele of ornithine aminotransferase (Oat).
|
25264521 |
2014 |