Associated Papers
Whole-exome sequencing screening for candidate genes and potential pathogenic variants associated with early-onset high myopia in 47 Chinese families.
Rui X et al.
Scientific Reports, 2025
Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy.
Palmer E et al.
Orphanet Journal of Rare Diseases, 2023
First reported case of pregnancy in a patient with ornithine aminotransferase deficiency.
Kanninen T et al.
Nutrition (burbank, Los Angeles County, Calif.), 2022
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
34395527 (PubMed )
Supplement: DataSheet1.PDF
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
Crystal structure of human recombinant ornithine aminotransferase.
Shen BW et al.
Journal of Molecular Biology, 1998
Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.
Brody LC et al.
The Journal of Biological Chemistry, 1992
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
Gyrate atrophy of the choroid and retina with vitreous hemorrhage complication in a Vietnamese child.
Minh-Phu N et al.
Oman Journal of Ophthalmology, 0
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