Associated Papers
Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants.
Lähteenoja L et al.
The British Journal of Ophthalmology, 2025
Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.
Balfoort BM et al.
Journal of Inherited Metabolic Disease, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR).
Balfoort BM et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2024
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 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
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
Diagnostic value of a combination of next-generation sequencing, chorioretinal imaging and metabolic analysis: lessons from a consanguineous Chinese family with gyrate atrophy of the choroid and retina stemming from a novel OAT variant.
Huang J et al.
The British Journal of Ophthalmology, 2019
Ornithine Aminotransferase, an Important Glutamate-Metabolizing Enzyme at the Crossroads of Multiple Metabolic Pathways.
Ginguay A et al.
Biology, 2017
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Ornithine-δ-Aminotransferase Inhibits Neurogenesis During Xenopus Embryonic Development.
Peng Y et al.
Investigative Ophthalmology & Visual Science, 2015
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D.
Ohkubo Y et al.
The Tohoku Journal of Experimental Medicine, 2005
Molecular basis of inherited diseases: a structural perspective.
Steward RE et al.
Trends in Genetics : Tig, 2003
Peripheral nervous system in gyrate atrophy of the choroid and retina with hyperornithinemia.
Peltola KE et al.
Neurology, 2002
Central nervous system involvement in gyrate atrophy of the choroid and retina with hyperornithinaemia.
Valtonen M et al.
Journal of Inherited Metabolic Disease, 1999
Gyrate atrophy of the choroid and retina: lymphocyte ornithine-delta-aminotransferase activity in different mutations and carriers.
Heinänen K et al.
Pediatric Research, 1998
Crystal structure of human recombinant ornithine aminotransferase.
Shen BW et al.
Journal of Molecular Biology, 1998
Human ornithine aminotransferase complexed with L-canaline and gabaculine: structural basis for substrate recognition.
Shah SA et al.
Structure (london, England : 1993), 1997
High frequencies of human genetic diseases: founder effect with genetic drift or selection?
Zlotogora J
American Journal of Medical Genetics, 1994
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
A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy.
Molaei Ramshe S et al.
Journal of Ophthalmic & Vision Research, 0
Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay.
Balfoort BM et al.
Molecular Genetics and Metabolism, 0