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Page 1
Nephrocalcinosis: An interesting case.
Subramanian SV, Arul, Jegan, Prasad A. Subramanian SV, et al. Natl Med J India. 2020 Jul-Aug;33(4):205-206. doi: 10.4103/0970-258X.316254. Natl Med J India. 2020. PMID: 34045373
Genetic study showed it to be a variant of AGXT gene mutation classical of PH type 1....
Genetic study showed it to be a variant of AGXT gene mutation classical of PH type 1....
The lack of trade-off between conformational stability and binding affinity in a nanobody with therapeutic potential for a misfolding disease.
Gómez-Mulas A, Naganathan AN, Pey AL. Gómez-Mulas A, et al. Int J Biol Macromol. 2025 Jan;284(Pt 1):138046. doi: 10.1016/j.ijbiomac.2024.138046. Epub 2024 Nov 26. Int J Biol Macromol. 2025. PMID: 39603302
We have recently developed a nanobody (NB-AGT-2) against the alanine:glyoxylate aminotransferase with high stability (T(m) 86 C) that may be useful to treat a misfolding disease called primary hyperoxaluria type 1. ...
We have recently developed a nanobody (NB-AGT-2) against the alanine:glyoxylate aminotransferase with high stability (T …
In vivo base editing rescues primary hyperoxaluria type 1 in rats.
Chen Z, Zhang D, Zheng R, Yang L, Huo Y, Zhang D, Fang X, Li Y, Xu G, Li D, Geng H. Chen Z, et al. Kidney Int. 2024 Mar;105(3):496-507. doi: 10.1016/j.kint.2023.11.029. Epub 2023 Dec 21. Kidney Int. 2024. PMID: 38142039
PH1 is caused by inherent genetic defects of the alanine glyoxylate aminotransferase (AGXT) gene. The in vivo repair of disease-causing genes was exceedingly inefficient before the invention of base editors which can efficiently introduce precisely tar …
PH1 is caused by inherent genetic defects of the alanine glyoxylate aminotransferase (AGXT) gene. The in vivo re …
Genetic assessment in primary hyperoxaluria: why it matters.
Mandrile G, Beck B, Acquaviva C, Rumsby G, Deesker L, Garrelfs S, Gupta A, Bacchetta J, Groothoff J; OxalEurope Consortium/Erknet Guideline Workgroup On Hyperoxaluria. Mandrile G, et al. Pediatr Nephrol. 2023 Mar;38(3):625-634. doi: 10.1007/s00467-022-05613-2. Epub 2022 Jun 13. Pediatr Nephrol. 2023. PMID: 35695965 Free PMC article. Review.
Alanine-Glyoxylate Aminotransferase Sustains Cancer Stemness Properties through the Upregulation of SOX2 and OCT4 in Hepatocellular Carcinoma Cells.
Ye P, Chi X, Yan X, Wu F, Liang Z, Yang WH. Ye P, et al. Biomolecules. 2022 May 5;12(5):668. doi: 10.3390/biom12050668. Biomolecules. 2022. PMID: 35625596 Free PMC article.
By enriching LCSCs from spheroid cultures and performing transcriptomic analysis, we determined that alanine-glyoxylate aminotransferase (AGXT), which participates in the metabolism of serine and glycine, was significantly upregulated in spheroid cultu …
By enriching LCSCs from spheroid cultures and performing transcriptomic analysis, we determined that alanine-glyoxylate ami
Epigenomic and transcriptional profiling identifies impaired glyoxylate detoxification in NAFLD as a risk factor for hyperoxaluria.
Gianmoena K, Gasparoni N, Jashari A, Gabrys P, Grgas K, Ghallab A, Nordström K, Gasparoni G, Reinders J, Edlund K, Godoy P, Schriewer A, Hayen H, Hudert CA, Damm G, Seehofer D, Weiss TS, Boor P, Anders HJ, Motrapu M, Jansen P, Schiergens TS, Falk-Paulsen M, Rosenstiel P, Lisowski C, Salido E, Marchan R, Walter J, Hengstler JG, Cadenas C. Gianmoena K, et al. Cell Rep. 2021 Aug 24;36(8):109526. doi: 10.1016/j.celrep.2021.109526. Cell Rep. 2021. PMID: 34433051 Free article.
Downregulation and hypermethylation of alanine-glyoxylate aminotransferase (Agxt), which detoxifies glyoxylate, preventing excessive oxalate accumulation, is accompanied by increased oxalate formation after metabolism of the precursor hydroxyproline. V …
Downregulation and hypermethylation of alanine-glyoxylate aminotransferase (Agxt), which detoxifies glyoxylate, …
Metabolic and Genetic Evaluation in Children with Nephrolithiasis.
Mandal A, Khandelwal P, Geetha TS, Murugan S, Meena J, Jana M, Sinha A, Kumar R, Seth A, Hari P, Bagga A. Mandal A, et al. Indian J Pediatr. 2022 Dec;89(12):1243-1250. doi: 10.1007/s12098-022-04234-9. Epub 2022 Jul 11. Indian J Pediatr. 2022. PMID: 35819704
Three variants in MOCOS and one in ATP7B were pathogenic; likely pathogenic variants included MOCOS (n = 2), AGXT, and SLC7A9 (n = 1, each). Causality was not attributed to two SLC34A1 likely pathogenic variants, due to lack of matching phenotype and dominant family histor …
Three variants in MOCOS and one in ATP7B were pathogenic; likely pathogenic variants included MOCOS (n = 2), AGXT, and SLC7A9 (n = 1, …
Primary hyperoxaluria and genetic linkages: an insight into the disease burden from Pakistan.
Hashmi S, Abid A, Sultan S, Shekhani SS, Lanewala AA, Zafar MN. Hashmi S, et al. Urolithiasis. 2022 Aug;50(4):439-445. doi: 10.1007/s00240-022-01338-x. Epub 2022 Jun 9. Urolithiasis. 2022. PMID: 35678848
Eighty-seven patients were diagnosed with primary hyperoxaluria, with mutations in alanine-glyoxylate-aminotransferase gene found in 73, followed by glyoxylate reductase/hydroxy-pyruvate reductase in 13, and 4-hydroxy-2-oxaloglutarate aldolase in 1. ...
Eighty-seven patients were diagnosed with primary hyperoxaluria, with mutations in alanine-glyoxylate-aminotransferase
Identification of Human Alanine-Glyoxylate Aminotransferase Ligands as Pharmacological Chaperones for Variants Associated with Primary Hyperoxaluria Type 1.
Grottelli S, Annunziato G, Pampalone G, Pieroni M, Dindo M, Ferlenghi F, Costantino G, Cellini B. Grottelli S, et al. J Med Chem. 2022 Jul 28;65(14):9718-9734. doi: 10.1021/acs.jmedchem.2c00142. Epub 2022 Jul 13. J Med Chem. 2022. PMID: 35830169 Free PMC article.
Primary hyperoxaluria type I (PH1) is a rare kidney disease due to the deficit of alanine:glyoxylate aminotransferase (AGT), a pyridoxal-5'-phosphate-dependent enzyme responsible for liver glyoxylate detoxification, which in turn prevents oxalate formation an …
Primary hyperoxaluria type I (PH1) is a rare kidney disease due to the deficit of alanine:glyoxylate aminotransferase ( …
Clinical and molecular characterization of primary hyperoxaluria in Egypt.
Soliman NA, Elmonem MA, Abdelrahman SM, Nabhan MM, Fahmy YA, Cogal A, Harris PC, Milliner DS. Soliman NA, et al. Sci Rep. 2022 Sep 23;12(1):15886. doi: 10.1038/s41598-022-17980-9. Sci Rep. 2022. PMID: 36151119 Free PMC article.
Primary hyperoxaluria (PH) is an autosomal recessive disorder of oxalate metabolism caused by pathogenic variants in either of three genes (AGXT, GRHPR or HOGA1). The study aimed at characterizing the clinical phenotypes as well as the genotypic spectrum of PH in Egypt. .. …
Primary hyperoxaluria (PH) is an autosomal recessive disorder of oxalate metabolism caused by pathogenic variants in either of three genes ( …
43 results