Associated Papers
First report of c.425-1G>A mutation in ornithine aminotransferase gene causing gyrate atrophy of the choroid and retina with hyperornithinemia.
Jalali H et al.
European Journal of Ophthalmology, 2021
Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene.
Sen S et al.
Ophthalmic Genetics, 2021
Molecular and Cellular Studies Reveal Folding Defects of Human Ornithine Aminotransferase Variants Associated With Gyrate Atrophy of the Choroid and Retina.
Montioli R et al.
Frontiers in Molecular Biosciences, 2021
R180T variant of δ-ornithine aminotransferase associated with gyrate atrophy: biochemical, computational, X-ray and NMR studies provide insight into its catalytic features.
Montioli R et al.
The Febs Journal, 2019
Molecular and cellular basis of ornithine δ-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina.
Montioli R et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2018
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.
Doimo M et al.
Human Mutation, 2013
Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D.
Ohkubo Y et al.
The Tohoku Journal of Experimental Medicine, 2005
Genotype-phenotype correlation of a pyridoxine-responsive form of gyrate atrophy.
Mashima YG et al.
Ophthalmic Genetics, 1999
Crystal structure of human recombinant ornithine aminotransferase.
Shen BW et al.
Journal of Molecular Biology, 1998
Expression and processing of human ornithine-delta-aminotransferase in Saccharomyces cerevisiae.
Dougherty KM et al.
Human Molecular Genetics, 1993
At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns.
Mitchell GA et al.
Proceedings of the National Academy of Sciences of the United States of America, 1989
B6-responsive disorders: a model of vitamin dependency.
Clayton PT
Journal of Inherited Metabolic Disease, 0
A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR).
Balfoort BM et al.
Molecular Genetics and Metabolism, 0
A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy.
Molaei Ramshe S et al.
Journal of Ophthalmic & Vision Research, 0