| Case series and literature review of primary hyperoxaluria type 1 in Chinese patients. | Case series and literature review of primary hyperoxaluria type 1 in Chinese patients.
Wu J, Song J, He Y, Zhong C, Yang Q, Li Q, Wang M., Free PMC Article | 12/4/2023 |
| Next-generation sequencing in identification of pathogenic variants in primary hyperoxaluria among 21 Egyptian families: Identification of two novel AGXT gene mutations. | Next-generation sequencing in identification of pathogenic variants in primary hyperoxaluria among 21 Egyptian families: Identification of two novel AGXT gene mutations.
Ahmed HA, Fadel FI, Abdel Mawla MA, Salah DM, Fathallah MG, Amr K., Free PMC Article | 08/13/2022 |
| Extended genetic analysis of exome sequencing for primary hyperoxaluria in pediatric urolithiasis patients with hyperoxaluria. | Extended genetic analysis of exome sequencing for primary hyperoxaluria in pediatric urolithiasis patients with hyperoxaluria.
Zhao Y, Li Y, Fang X, He L, Fan Y, Geng H, Wu J. | 02/12/2022 |
| Pharmacogenetics of advanced lung cancer: Predictive value of functional genetic polymorphism AGXT Pro11Leu in clinical outcome? | Pharmacogenetics of advanced lung cancer: Predictive value of functional genetic polymorphism AGXT Pro11Leu in clinical outcome?
Catarata MJ, Lourenço M, Martins MF, Frade J, Pêgo A, Cordeiro CR, Medeiros R, Ribeiro R. | 09/25/2021 |
| Characteristics of the genotype and phenotype in Chinese primary hyperoxaluria type 1 populations. | Characteristics of the genotype and phenotype in Chinese primary hyperoxaluria type 1 populations.
Zhao F, Li J, Tang L, Li C, Wang W, Ning C. | 07/3/2021 |
| The ILE56 mutation on different genetic backgrounds of alanine:glyoxylate aminotransferase: Clinical features and biochemical characterization. | The ILE56 mutation on different genetic backgrounds of alanine:glyoxylate aminotransferase: Clinical features and biochemical characterization.
Dindo M, Mandrile G, Conter C, Montone R, Giachino D, Pelle A, Costantini C, Cellini B. | 07/3/2021 |
| Loss of alanine-glyoxylate and serine-pyruvate aminotransferase expression accelerated the progression of hepatocellular carcinoma and predicted poor prognosis. | Loss of alanine-glyoxylate and serine-pyruvate aminotransferase expression accelerated the progression of hepatocellular carcinoma and predicted poor prognosis.
Sun Y, Li W, Shen S, Yang X, Lu B, Zhang X, Lu P, Shen Y, Ji J., Free PMC Article | 09/19/2020 |
| two human constructs, wild-type and engineered AGT (RHEAM), were tested in Agxt(-/-) mice. Repeat dosing in Agxt(-/-) mice resulted in a 40% reduction in urinary oxalate, suggesting therapeutic benefit. | Systemic Alanine Glyoxylate Aminotransferase mRNA Improves Glyoxylate Metabolism in a Mouse Model of Primary Hyperoxaluria Type 1.
Kukreja A, Lasaro M, Cobaugh C, Forbes C, Tang JP, Gao X, Martin-Higueras C, Pey AL, Salido E, Sobolov S, Subramanian RR. | 07/25/2020 |
| novel mutation c. 799A>T p. (IIe267Phe) detected in primary hyperoxaluria type 1 patient and family | Primary hyperoxaluria Type 1: A case report in an extended family with a novel AGXT gene mutation.
Abukhatwah MW, Almalki SH, Althobaiti MS, Alharbi AO, Almalki NK, Kamal NM., Free PMC Article | 07/11/2020 |
| Expression of the primary hyperoxaluria type 1-causal gene AGXT can be regulated at the posttranscriptional level by miR-4660. | Human MiR-4660 regulates the expression of alanine-glyoxylate aminotransferase and may be a biomarker for idiopathic oxalosis.
Tu X, Zhao Y, Li Q, Yu X, Yang Y, Shi S, Ding Z, Miao Y, Zou Z, Wang X, Jiang J, Du D. | 01/11/2020 |
| The most common AGXT gene mutation found in Libyan children with primary hyperoxaluria type 1 was c.731T>C (p.lle244thr) and this is more likely due to the strong genetic pooling caused by the high consanguinity rate. | Mutational analysis of AGXT gene in Libyan children with primary hyperoxaluria type 1 at Tripoli Children Hospital.
Rhuma NR, Fituri OA, Sabei LT. | 10/26/2019 |
| AGXT1 may aid in diagnostic workup especially in conjunction with arginase-1 for HCCs that may otherwise defy conventional immunostaining patterns | Alanine-glyoxylate aminotransferase 1 (AGXT1) is a novel marker for hepatocellular carcinomas.
Zhao CL, Hui Y, Wang LJ, Yang D, Yakirevich E, Mangray S, Huang CK, Lu S. | 05/18/2019 |
| Pyridoxine increases the metabolic efficiency of alanine:glyoxylate aminotransferase. | Effects of alanine:glyoxylate aminotransferase variants and pyridoxine sensitivity on oxalate metabolism in a cell-based cytotoxicity assay.
Fargue S, Knight J, Holmes RP, Rumsby G, Danpure CJ., Free PMC Article | 05/11/2019 |
| To the best of our knowledge, 2 novel variants of AGXT, p.Gly41Trp and p.Leu33Met, were first reported. Bioinformatics and functional analysis showed that only 7 mutations led to a reduced expression of alanine-glyoxylate amino transferase (AGT) at a protein level | Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population: Results from a Single Center Study and a Systematic Review.
Du DF, Li QQ, Chen C, Shi SM, Zhao YY, Jiang JP, Wang DW, Guo H, Zhang WJ, Chen ZS. | 01/26/2019 |
| one novel mutation, c.1015delG, and a common mutation, c.815_816insGA, of the AGXT gene among four unrelated families with Primary hyperoxaluria type 1, is reported. | A Putative Mutation Hotspot of the AGXT Gene Associated with Primary Hyperoxaluria Type 1 in the Chinese Population.
Li X, Gu J, Yang Y, Li J, Li Y. | 01/12/2019 |
| Mutations at the dimer interface of alanine-glyoxylate aminotransferase alter enzyme structure/activity, leading to primary hyperoxaluria type I and determine the cellular response to vitamin B6. | Correlation between the molecular effects of mutations at the dimer interface of alanine-glyoxylate aminotransferase leading to primary hyperoxaluria type I and the cellular response to vitamin B(6).
Dindo M, Oppici E, Dell'Orco D, Montone R, Cellini B. | 12/29/2018 |
| two novel AGXT missense mutations (p.M49L and p.N72I), which will enrich the AGXT mutation database and provide a better comprehension of PH1 pathogenesis, were identified in a big Chinese PH1 family. Significant morphological and structural difference of kidney stones from two siblings with the same genotype observed in this study displays the heterogeneity of genotype-phenotype correlation | Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stones.
Wang C, Lu J, Lang Y, Liu T, Wang X, Zhao X, Shao L., Free PMC Article | 06/9/2018 |
| AGXT mutational analysis was performed to confirm the diagnosis of PH1. | Clinical spectrum of primary hyperoxaluria type 1: Experience of a tertiary center.
Soliman NA, Nabhan MM, Abdelrahman SM, Abdelaziz H, Helmy R, Ghanim K, Bazaraa HM, Badr AM, Tolba OA, Kotb MA, Eweeda KM, Fayez A., Free PMC Article | 04/28/2018 |
| this study identifies a novel AGXT gene mutation in primary hyperoxaluria after kidney transplantation failure in Tunisian patient | Identification of a novel AGXT gene mutation in primary hyperoxaluria after kidney transplantation failure.
M'dimegh S, Omezzine A, Hamida-Rebai MB, Aquaviva-Bourdain C, M'barek I, Sahtout W, Zellama D, Souche G, Achour A, Abroug S, Bouslama A. | 01/20/2018 |
| AGXT gene sequencing is now the choice of diagnosis of Primary hyperoxaluria type 1 (PH1)due to its non-invasive nature compared to liver enzyme assay. Early diagnosis and accurate treatment in PH1 is important for better patient outcomes. | Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey.
Isiyel E, Ezgu SA, Caliskan S, Akman S, Akil I, Tabel Y, Akinci N, Ozdogan EB, Ozel A, Eroglu FK, Ezgu FS. | 12/16/2017 |
| Caenorhabditis elegans AGXT-1 is a mitochondrial and temperature-adapted ortholog of peroxisomal human AGT1. | Caenorhabditis elegans AGXT-1 is a mitochondrial and temperature-adapted ortholog of peroxisomal human AGT1: New insights into between-species divergence in glyoxylate metabolism.
Mesa-Torres N, Calvo AC, Oppici E, Titelbaum N, Montioli R, Miranda-Vizuete A, Cellini B, Salido E, Pey AL. | 10/7/2017 |
| Novel AGXT mutations in a Tunisian population with primary hyperoxaluria type 1. | Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1.
M'dimegh S, Omezzine A, M'barek I, Moussa A, Mabrouk S, Kaarout H, Souche G, Chemli J, Aloui S, Aquaviva-Bourdain C, Achour A, Abroug S, Bouslama A. | 06/3/2017 |
| The novel p.Gln137Hisfs*19 AGXT mutation detected in this study extends the spectrum of known primary hyperoxaluria type I AGXT gene mutations in Tunisia. | A novel mutation in the AGXT gene causing primary hyperoxaluria type I: genotype-phenotype correlation.
M'Dimegh S, Aquaviva-Bourdain C, Omezzine A, M'Barek I, Souche G, Zellama D, Abidi K, Achour A, Gargah T, Abroug S, Bouslama A. | 04/1/2017 |
| Data show that onomeric minor allele of human alanine glyoxylate aminotransferase (AGT-Mi) binds pyridoxal 5-phosphate (PLP) but does not display catalytic activity. | Effects of interface mutations on the dimerization of alanine glyoxylate aminotransferase and implications in the mistargeting of the pathogenic variants F152I and I244T.
Dindo M, Montioli R, Busato M, Giorgetti A, Cellini B, Borri Voltattorni C. | 02/4/2017 |
| Letter/Case Report: novel missense AGXT gene mutation in a Sri Lankan family with primary hyperoxaluria type 1. | Novel AGXT gene mutation in a Sri Lankan family with primary Hyperoxaluria type 1.
Sirisena ND, Tantrigoda NH, Kariyawasam KJ, Jayasekara RW, Dissanayake VH. | 10/1/2016 |