Associated Papers
Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?
Buijs MJN et al.
Acta Ophthalmologica, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
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
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
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
OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina.
Katagiri S et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2014
Low-protein diet and progression of retinal degeneration in gyrate atrophy of the choroid and retina: a twenty-six-year follow-up.
Santinelli R et al.
Journal of Inherited Metabolic Disease, 2004
Crystal structure of human recombinant ornithine aminotransferase.
Shen BW et al.
Journal of Molecular Biology, 1998
A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor.
Kobayashi T et al.
American Journal of Human Genetics, 1995
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