|
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 |
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 |
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 |
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 |
AlteredExpression
|
disease |
BEFREE |
Gyrate atrophy (GA) of the choroid and retina is a rare autosomal recessive disorder that occurs due to deficiency of the mitochondrial enzyme ornithine aminotransferase (OAT).
|
30429681 |
2018 |
|
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 |
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 |
Biomarker
|
disease |
MGD |
The retarded hair growth (rhg) mutation in mice is an allele of ornithine aminotransferase (Oat).
|
25264521 |
2014 |
|
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 |
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 |
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 |
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 |
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 |
CLINGEN |
Two continuous coupled assays for ornithine-δ-aminotransferase.
|
23747282 |
2013 |
|
Gyrate Atrophy
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation.
|
22674428 |
2012 |
|
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 |
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 |
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 |
To investigate the effect of amino acids on ornithine cytotoxicity in ornithine-delta-aminotransferase (OAT)-deficient human retinal pigment epithelial (RPE) cells as an in vitro model of gyrate atrophy (GA) of the choroid and retina.
|
14578430 |
2003 |
|
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 |
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 |
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 |
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 |
AlteredExpression
|
disease |
BEFREE |
Gyrate atrophy of the choroid and retina: lymphocyte ornithine-delta-aminotransferase activity in different mutations and carriers.
|
9727717 |
1998 |