Mitochondriale Ornithin-Aminotransferase

Brody LC et al. (1992) Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.

Passador-Gurgel G et al. (2007) Quantitative trait transcripts for nicotine resistance in Drosophila melanogaster.

Geraghty MT et al. (1993) Isolation and characterization of an ornithine aminotransferase-related sequence (OATL3) mapping to 10q26.

Dougherty KM et al. (1993) Expression and processing of human ornithine-delta-aminotransferase in Saccharomyces cerevisiae.

Michaud J et al. (1995) Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V.

Kobayashi T et al. (1995) A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor.

Ramesh V et al. (1986) Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase.

Inana G et al. (1986) Molecular cloning of human ornithine aminotransferase mRNA.

Inana G et al. (1988) Expression defect of ornithine aminotransferase gene in gyrate atrophy.

Ramesh V et al. (1988) Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy.

Wu J et al. (1988) The ornithine aminotransferase (OAT) locus is linked and distal to D10S20 on the long arm of chromosome 10.

O'Donnell JJ et al. (1988) Gyrate atrophy of the choroid and retina: assignment of the ornithine aminotransferase structural gene to human chromosome 10 and mouse chromosome 7.

Mitchell GA et al. (1988) Human ornithine-delta-aminotransferase. cDNA cloning and analysis of the structural gene.

Hotta Y et al. (1989) Inheritance of ornithine aminotransferase gene, mRNA, and enzyme defect in a family with gyrate atrophy of the choroid and retina.

Inana G et al. (1989) Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy.

Dietz HC et al. (1993) The skipping of constitutive exons in vivo induced by nonsense mutations.

Ramesh V et al. (1988) The ornithine aminotransferase (OAT) locus: analysis of RFLPs in gyrate atrophy.

Mitchell GA et al. (1988) An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina.

Barrett DJ et al. (1987) Chromosomal localization of human ornithine aminotransferase gene sequences to 10q26 and Xp11.2.

Orita M et al. (1989) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

Mashima Y et al. (1992) Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy.

Michaud J et al. (1992) Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.

Akaki Y et al. (1992) A deletion in the ornithine aminotransferase gene in gyrate atrophy.

Mitchell GA et al. (1991) Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation.

McClatchey AI et al. (1990) Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.

Kaufman DL et al. (1990) Detection of point mutations associated with genetic diseases by an exon scanning technique.

Mitchell GA et al. (1989) At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns.

Ramesh V et al. (1987) Localization of the ornithine aminotransferase gene and related sequences on two human chromosomes.

Orphanet article

NCBI article

OMIM.ORG article