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| http://dx.doi.org/10.1016/j.ekir.2020.07.008 | DOI Listing |
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Synthesis and LDHA Inhibitory Activity of New Stiripentol-Related Compounds of Potential Use in Primary Hyperoxaluria.
Int J Mol Sci
December 2024
Department of Inorganic and Organic Chemistry, Faculty of Experimental Sciences, University of Jaén, Campus of International Excellence in Agri-Food (ceiA3), 23071 Jaén, Spain.
Human lactate dehydrogenase A (LDHA) is a homotetrameric isozyme involved in the conversion of glyoxylate into oxalate in the cytosol of liver cells (hepatocytes) and partially responsible for the overproduction of oxalate in patients with the rare disease called primary hyperoxaluria (PH). Recently, LDHA inhibition has been validated as a safe therapeutic method to try to control the PH disease. Stiripentol (STP) is an approved drug used in the treatment of seizures associated with Dravet's syndrome (a severe form of epilepsy in infancy) which, in addition, has been drawing interest in recent years also for potentially treating PH, due to its LDHA inhibitory activity.
View Article and Find Full Text PDFPediatric Nephrolithiasis: A Changing Landscape Through Time and Space.
Medicina (Kaunas)
December 2024
Pediatric Unit, Department of Surgical Sciences, Destiny, Gynecology and Pediatrics, University of Verona, 37126 Verona, Italy.
Pediatric nephrolithiasis is an ancient and complex disorder that has seen a significant rise in recent decades and the underlying causes contributing to stone formation in children may also be shifting. Historically, kidney stones have been linked to factors such as metabolic disorders, congenital abnormalities, and family history. However, the recent increase in incidence appears to be associated with new risk factors, including changes in lifestyle and diet, the growing prevalence of obesity, metabolic syndrome, diabetes, and even climate change.
View Article and Find Full Text PDFComparison of Endoplasmic Reticulum Stress and Pyroptosis Induced by Pathogenic Calcium Oxalate Monohydrate and Physiologic Calcium Oxalate Dihydrate Crystals in HK-2 Cells: Insights into Kidney Stone Formation.
Cells
December 2024
Institute of Biomineralization and Lithiasis Research, College of Chemistry and Materials Science, Jinan University, Guangzhou 510632, China.
Endoplasmic reticulum stress (ERS) can activate pyroptosis through CHOP and TXNIP; however, the correlation between this process and the formation of kidney stones has not been reported. The purpose is to investigate the effects of calcium oxalate monohydrate (COM) and calcium oxalate dihydrate (COD) on ERS and pyroptosis in HK-2 cells and to explore the formation mechanism of calcium oxalate stones. HK-2 cells were injured by 3 μm COM and COD.
View Article and Find Full Text PDFPertinence between Preoperative Renal Function and Composition of Renal Calculi in Elderly Patients: A Retrospective Analysis.
Arch Esp Urol
December 2024
Department of Laboratory Medicine, Wenzhou People's Hospital; The Third Affiliated Hospital of Shanghai University; The Wenzhou Third Clinical College of Wenzhou Medical University, 325000 Wenzhou, Zhejiang, China.
Background: Kidney stone disease poses a significant challenge in the geriatric population. Preoperative renal function has been speculated to influence the composition of renal calculi, and consequently, the management approach. We studied the correlation between preoperative renal function and the composition of renal calculi in elderly patients, which could have implications for optimizing therapeutic strategies.
View Article and Find Full Text PDFTitle: Identification of a novel GRHPR mutation in primary hyperoxaluria type 2 and establishment of patient-derived iPSC line.
Hum Cell
January 2025
Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children's Regional Medical Center, Hangzhou, 310052, China.
This research delves into Primary Hyperoxaluria Type 2 (PH2), an autosomal recessive disorder precipitated by a unique case of compound heterozygous deleterious mutations in the GRHPR gene, specifically the intron2/3 c.214-2 T > G and the exon8 c.864-865delTG, leading to a premature stop codon at p.
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