| Role of lung ornithine aminotransferase in idiopathic pulmonary fibrosis: regulation of mitochondrial ROS generation and TGF-beta1 activity. | Role of lung ornithine aminotransferase in idiopathic pulmonary fibrosis: regulation of mitochondrial ROS generation and TGF-β1 activity.
Lee JU, Song KS, Hong J, Shin H, Park E, Baek J, Park S, Baek AR, Lee J, Jang AS, Kim DJ, Chin SS, Kim UJ, Jeong SH, Park SW., Free PMC Article | 03/7/2024 |
| Ornithine aminotransferase supports polyamine synthesis in pancreatic cancer. | Ornithine aminotransferase supports polyamine synthesis in pancreatic cancer.
Lee MS, Dennis C, Naqvi I, Dailey L, Lorzadeh A, Ye G, Zaytouni T, Adler A, Hitchcock DS, Lin L, Hoffman MT, Bhuiyan AM, Barth JL, Machacek ME, Mino-Kenudson M, Dougan SK, Jadhav U, Clish CB, Kalaany NY., Free PMC Article | 04/19/2023 |
| Biochemical and Bioinformatic Studies of Mutations of Residues at the Monomer-Monomer Interface of Human Ornithine Aminotransferase Leading to Gyrate Atrophy of Choroid and Retina. | Biochemical and Bioinformatic Studies of Mutations of Residues at the Monomer-Monomer Interface of Human Ornithine Aminotransferase Leading to Gyrate Atrophy of Choroid and Retina.
Floriani F, Borri Voltattorni C, Cellini B, Montioli R., Free PMC Article | 03/1/2023 |
| Ornithine aminotransferase and carbamoyl phosphate synthetase 1 involved in ammonia metabolism serve as novel targets for early stages of gastric cancer. | Ornithine aminotransferase and carbamoyl phosphate synthetase 1 involved in ammonia metabolism serve as novel targets for early stages of gastric cancer.
Jiang Z, Wei C, Luo Y, Xiao Y, Wang L, Guo W, Yuan X., Free PMC Article | 10/15/2022 |
| Determination of the pH dependence, substrate specificity, and turnovers of alternative substrates for human ornithine aminotransferase. | Determination of the pH dependence, substrate specificity, and turnovers of alternative substrates for human ornithine aminotransferase.
Butrin A, Butrin A, Wawrzak Z, Moran GR, Liu D., Free PMC Article | 07/2/2022 |
| Turnover and Inactivation Mechanisms for (S)-3-Amino-4,4-difluorocyclopent-1-enecarboxylic Acid, a Selective Mechanism-Based Inactivator of Human Ornithine Aminotransferase. | Turnover and Inactivation Mechanisms for (S)-3-Amino-4,4-difluorocyclopent-1-enecarboxylic Acid, a Selective Mechanism-Based Inactivator of Human Ornithine Aminotransferase.
Shen S, Butrin A, Doubleday PF, Melani RD, Beaupre BA, Tavares MT, Ferreira GM, Kelleher NL, Moran GR, Liu D, Silverman RB., Free PMC Article | 01/1/2022 |
| Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene. | Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene.
Sen S, Kannan SK, Shanmugam U, Rajan R, Babu N, Vanniarajan A. | 01/1/2022 |
| A novel c.980C>G variant in OAT results in identifiable gyrate atrophy phenotype associated with retinal detachment in a young female. | A novel c.980C>G variant in OAT results in identifiable gyrate atrophy phenotype associated with retinal detachment in a young female.
Magliyah M, Alsalamah AK, AlOtaibi M, Nowilaty SR. | 09/4/2021 |
| Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects. | Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects.
Montioli R, Bellezza I, Desbats MA, Borri Voltattorni C, Salviati L, Cellini B. | 04/17/2021 |
| Recruitment of a third-degree first cousin consanguineous marriage family with gyrate atrophy of the choroid and retina (GACR) allowed us to identify a novel pathogenic OAT variant in the Chinese population, broadening the mutation spectrum. | 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, Fu J, Fu S, Yang L, Nie K, Duan C, Cheng J, Li Y, Lv H, Chen R, Liu L, Fu J. | 10/26/2019 |
| One novel homozygous missense mutation in OAT was identified and considered to be pathogenic in a patient with gyrate atrophy. The response for the vitamin B6 supplementation was positive. | Multimodal characterization of a novel mutation causing vitamin B6-responsive gyrate atrophy.
Cui X, Jauregui R, Park KS, Tsang SH., Free PMC Article | 03/30/2019 |
| Study identifies differentially variable CpG sites in OAT gene displaying increased expression in patients with chronic obstructive pulmonary disease. | Altered DNA methylation is associated with aberrant gene expression in parenchymal but not airway fibroblasts isolated from individuals with COPD.
Clifford RL, Fishbane N, Patel J, MacIsaac JL, McEwen LM, Fisher AJ, Brandsma CA, Nair P, Kobor MS, Hackett TL, Knox AJ., Free PMC Article | 03/2/2019 |
| OAT Val332-to-Met substitution identified in pyridoxine-responsive gyrate atrophy patients does not significantly affect the spectroscopic and kinetic properties of OAT, but during catalysis it makes the protein prone to convert into the apo-form, which undergoes unfolding and aggregation under physiological conditions. | 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, Desbats MA, Grottelli S, Doimo M, Bellezza I, Borri Voltattorni C, Salviati L, Cellini B. | 12/22/2018 |
| identified Arg217 as an important hot-spot at the dimer-dimer interface of hOAT and demonstrated that the artificial dimeric variant R217A exhibits spectroscopic properties, Tm values and catalytic features similar to those of the tetrameric species. This finding indicates that the catalytic unit of hOAT is the dimer. | Oligomeric State and Thermal Stability of Apo- and Holo- Human Ornithine δ-Aminotransferase.
Montioli R, Zamparelli C, Borri Voltattorni C, Cellini B., Free PMC Article | 07/22/2017 |
| Sequencing of the gene for ornithine aminotransferase reveals a homozygous mutation in our patient (base exchange c.498C>A in Exon 4). | Gyrate Atrophy in 2 Siblings - Ophthalmological Findings and A New Mutation.
Michel M, Blatsios G, Scholl-Bürgi S, Entenmann A, Wernstedt A, Zschocke A, Pichler K, Höller A, Karall D. | 08/27/2016 |
| Neurogenesis is inhibited by X-OAT during Xenopus embryonic development, but it is essential for Xenopus embryonic development. The Arg 180 and Leu 402 are crucial for these effects of the OAT molecule in development. | Ornithine-δ-Aminotransferase Inhibits Neurogenesis During Xenopus Embryonic Development.
Peng Y, Cooper SK, Li Y, Mei JM, Qiu S, Borchert GL, Donald SP, Kung HF, Phang JM., Free PMC Article | 08/29/2015 |
| Our report describes the first case of gyrate atrophy in the Korean population diagnosed by OAT gene analysis and treated with vitamin B6 dietary supplementation. | Gyrate atrophy of the choroid and retina diagnosed by ornithine-δ-aminotransferase gene analysis: a case report.
Kim SJ, Lim DH, Kim JH, Kang SW., Free PMC Article | 06/7/2014 |
| We identified a novel frameshift mutation (p.K169DfsX10) in the OAT gene. While an early arginine-restricted dietary treatment suppressed the fundus changes | OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina.
Katagiri S, Gekka T, Hayashi T, Ida H, Ohashi T, Eto Y, Tsuneoka H. | 05/17/2014 |
| Data suggest that other factors besides the specific ornithine aminotransferase (OAT) genotype modulate atrophy of choroid and retina (GA) phenotype in patients. | Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.
Doimo M, Desbats MA, Baldoin MC, Lenzini E, Basso G, Murphy E, Graziano C, Seri M, Burlina A, Sartori G, Trevisson E, Salviati L. | 07/6/2013 |
| OAT was a highly homologous and stable protein located in the mitochondria. | [Expression and bioinformatic analysis of ornithine aminotransferase
in non-small cell lung cancer].
Zhou D, Cheng X, Yang S, Ming Z, Li W, Zhang Q, Zhang Y., Free PMC Article | 02/9/2013 |
| Molecular analysis revealed a new deletion c.532_536delTGGGG (p.Trp178X) and a known mutation c.897C>G (p.Tyr299X) in the OAT gene. | Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation.
Renner AB, Walter A, Fiebig BS, Jägle H. | 11/3/2012 |
| Fundus autofluorescence imaging can reveal the extent of neurosensory dysfunction in gyrate atrophy patients. | Retinal structure, function, and molecular pathologic features in gyrate atrophy.
Sergouniotis PI, Davidson AE, Lenassi E, Devery SR, Moore AT, Webster AR. | 04/28/2012 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesGenetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ. Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol?
Ruaño G, Thompson PD, Kane JP, Pullinger CR, Windemuth A, Seip RL, Kocherla M, Holford TR, Wu AH. | 09/15/2010 |
| analysis of ornithine aminotransferase substrate specificity | Determinants of substrate specificity in omega-aminotransferases.
Markova M, Peneff C, Hewlins MJ, Schirmer T, John RA. | 01/21/2010 |