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Efficient and safe in vivo treatment of primary hyperoxaluria type 1 via LNP-CRISPR-Cas9-mediated glycolate oxidase disruption.
Jiang Y, Chen S, Hsiao S, Zhang H, Xie D, Wang ZJ, Ren W, Liu M, Liao J, Wu Y. Jiang Y, et al. Mol Ther. 2025 Jan 8;33(1):104-118. doi: 10.1016/j.ymthe.2024.10.003. Epub 2024 Oct 9. Mol Ther. 2025. PMID: 39385468 Free PMC article.
Primary hyperoxaluria type 1 (PH1) is a severe genetic metabolic disorder caused by mutations in the AGXT gene, leading to defects in enzymes crucial for glyoxylate metabolism. PH1 is characterized by severe, potentially life-threatening manifestations due to excessive oxa …
Primary hyperoxaluria type 1 (PH1) is a severe genetic metabolic disorder caused by mutations in the AGXT gene, leading to defects in …
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 Insights Into Nephrolithiasis and Renal Cancer Predisposition: Precision Medicine in Genes, Diagnosis, and Therapy.
Wu CW, Huang YM, Ziadeh H, Jong BE, Dalal P, Lin HC, Majmundar A, Tsai YC, Hijaz A, Stoller ML, Romero M, Hildebrandt F. Wu CW, et al. Semin Nephrol. 2025 Jul;45(4):151655. doi: 10.1016/j.semnephrol.2025.151655. Epub 2025 Jul 15. Semin Nephrol. 2025. PMID: 40664523 Review.
These include gene-specific therapies, such as drugs targeting AGXT for primary hyperoxaluria type 1 and VHL for renal cell carcinoma, alongside nonspecific treatments for conditions such as Bartter syndrome and Lynch syndrome. ...
These include gene-specific therapies, such as drugs targeting AGXT for primary hyperoxaluria type 1 and VHL for renal cell carcinoma …
Phenotypes and the Importance of Genetic Analysis in Adult Patients with Nephrolithiasis and/or Nephrocalcinosis: A Single-Center Experience.
Rusu EE, Sorohan BM, Pandele R, Popescu A, Bobeica R, Balanica S, Zilisteanu DS, Iordache A, Lungu A, Ismail G. Rusu EE, et al. Genes (Basel). 2025 Apr 27;16(5):501. doi: 10.3390/genes16050501. Genes (Basel). 2025. PMID: 40428323 Free PMC article.
Mendelian diseases were diagnosed in 14 (28.6%) cases: cystinuria (SLC3A1, SLC7A9; n = 4), hereditary distal renal tubular acidosis (SLC4A1; n = 3), Dent disease (CLCN5; n = 2), familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (CLDN16; n = 1), infantile hypercalc …
Mendelian diseases were diagnosed in 14 (28.6%) cases: cystinuria (SLC3A1, SLC7A9; n = 4), hereditary distal renal tubular acidosis (SLC4A1; …
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.
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, …
Biochemical and cellular effects of a novel missense mutation of the AGXT gene associated with Primary Hyperoxaluria Type 1.
Gatticchi L, Dindo M, Pampalone G, Conter C, Cellini B, Takayama T. Gatticchi L, et al. Biochem Biophys Res Commun. 2023 Feb 19;645:118-123. doi: 10.1016/j.bbrc.2023.01.042. Epub 2023 Jan 14. Biochem Biophys Res Commun. 2023. PMID: 36682331
Primary Hyperoxaluria Type 1 (PH1) is a rare autosomal disease caused by mutations in AGXT that lead to the deficiency of alanine:glyoxylate aminotransferase (AGT). AGT is a liver pyridoxal 5'-phosphate (PLP)-dependent enzyme that detoxifies glyoxylate …
Primary Hyperoxaluria Type 1 (PH1) is a rare autosomal disease caused by mutations in AGXT that lead to the deficiency of alanine …
Genetic loci of beta-aminoisobutyric acid are associated with aging-related mild cognitive impairment.
Granot-Hershkovitz E, Spitzer B, Yang Y, Tarraf W, Yu B, Boerwinkle E, Fornage M, Mosley TH, DeCarli C, Kristal BS, González HM, Sofer T. Granot-Hershkovitz E, et al. Transl Psychiatry. 2023 Apr 29;13(1):140. doi: 10.1038/s41398-023-02437-y. Transl Psychiatry. 2023. PMID: 37120436 Free PMC article.
Variants associated with the MCI-MRS are located in the Alanine-Glyoxylate Aminotransferase 2 (AGXT2 gene), which is known to be associated with BAIBA metabolism. ...
Variants associated with the MCI-MRS are located in the Alanine-Glyoxylate Aminotransferase 2 (AGXT2 gene), which is kn …
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 ( …
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 …
51 results