[HTML][HTML] Epigenomic and transcriptional profiling identifies impaired glyoxylate detoxification in NAFLD as a risk factor for hyperoxaluria

K Gianmoena, N Gasparoni, A Jashari, P Gabrys… - Cell Reports, 2021 - cell.com
Epigenetic modifications (eg DNA methylation) in NAFLD and their contribution to disease
progression and extrahepatic complications are poorly explored. Here, we use an integrated …

[HTML][HTML] Hepatic lactate dehydrogenase A: an RNA interference target for the treatment of all known types of primary hyperoxaluria

G Ariceta, K Barrios, BD Brown, B Hoppe… - Kidney International …, 2021 - Elsevier
Introduction Primary hyperoxaluria (PH) is a family of three rare genetic disorders of hepatic
glyoxylate metabolism that lead to overproduction and increased renal excretion of oxalate …

An investigational RNAi therapeutic targeting glycolate oxidase reduces oxalate production in models of primary hyperoxaluria

A Liebow, X Li, T Racie, J Hettinger… - Journal of the …, 2017 - journals.lww.com
Abstract Primary hyperoxaluria type 1 (PH1), an inherited rare disease of glyoxylate
metabolism, arises from mutations in the enzyme alanine-glyoxylate aminotransferase. The …

Specific inhibition of hepatic lactate dehydrogenase reduces oxalate production in mouse models of primary hyperoxaluria

C Lai, N Pursell, J Gierut, U Saxena, W Zhou, M Dills… - Molecular Therapy, 2018 - cell.com
Primary hyperoxalurias (PHs) are autosomal recessive disorders caused by the
overproduction of oxalate leading to calcium oxalate precipitation in the kidney and …

CRISPR/Cas9-mediated knock-out of AGXT1 in HepG2 cells as a new in vitro model of Primary Hyperoxaluria Type 1

L Gatticchi, S Grottelli, G Ambrosini, G Pampalone… - Biochimie, 2022 - Elsevier
AGXT1 encodes alanine: glyoxylate aminotransferase 1 (AGT1), a liver peroxisomal
pyridoxal 5′-phosphate dependent-enzyme whose deficit causes Primary Hyperoxaluria …

Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria

MD Lage, AMC Pittman, A Roncador, B Cellini… - PLoS …, 2014 - journals.plos.org
Primary Hyperoxaluria Type 1 (PH1) is a rare autosomal recessive kidney stone disease
caused by deficiency of the peroxisomal enzyme alanine: glyoxylate aminotransferase …

A targeted analysis reveals relevant shifts in the methylation and transcription of genes responsible for bile acid homeostasis and drug metabolism in non-alcoholic …

HB Schiöth, A Boström, SK Murphy, W Erhart, J Hampe… - BMC genomics, 2016 - Springer
Background Non-alcoholic fatty liver disease (NAFLD) is associated with a high risk for liver
cirrhosis and cancer. Recent studies demonstrate that NAFLD significantly impacts on the …

Proteomic identification and characterization of hepatic glyoxalase 1 dysregulation in non-alcoholic fatty liver disease

C Spanos, EM Maldonado, CP Fisher… - Proteome Science, 2018 - Springer
Background Non-alcoholic fatty liver disease (NAFLD) is the most common liver disease
worldwide. However, its molecular pathogenesis is incompletely characterized and clinical …

Glyoxylate synthesis, and its modulation and influence on oxalate synthesis

RP HOLMES, DG ASSIMOS - The Journal of urology, 1998 - Elsevier
PURPOSE: We define the major pathways of hepatic oxalate synthesis in humans, examine
the association with other metabolic pathways and identify ways that oxalate synthesis may …

[HTML][HTML] Primary hyperoxaluria type 1

DS Milliner, PC Harris, DJ Sas, AG Cogal, JC Lieske - 2022 - europepmc.org
Primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the liver peroxisomal
enzyme alanine: glyoxylate-aminotransferase (AGT), which catalyzes the conversion of …