Tanshinone IIA inhibits heat-induced growth of p53-mutant Huh-7 hepatocellular carcinoma by modulating osmotic homeostasis and glycolysis through targeting ALDH7A1 [PDF]
Cell Death DiscoveryThermal ablation offers minimally invasive treatment options for hepatocellular carcinoma (HCC) therapy. However, local recurrence due to sublethal temperatures enhances tumor cell survival.
Hao Li +9 more
doaj +2 more sources
Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study [PDF]
Frontiers in NeurologyObjectiveTo summarize the clinical features and the spectrum of ALDH7A1 gene variants in Chinese children with pyridoxine-dependent epilepsy (PDE).MethodsClinical data were collected from six pediatric patients with PDE treated at Linyi People’s Hospital
Xixi Yu +5 more
doaj +2 more sources
Targeting AASS alleviates neurotoxicity and improves mitochondrial function in astrocyte models for pyridoxine-dependent epilepsy [PDF]
Molecular Therapy: Nucleic AcidsPyridoxine-dependent epilepsy (PDE) is a rare neurometabolic disorder of lysine catabolism caused by bi-allelic variants in ALDH7A1. This enzyme deficiency leads to accumulation of neurotoxic metabolites, pyridoxal-phosphate inactivation, and ...
Imke M.E. Schuurmans +13 more
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Identification of ALDH7A1 as a DNA-methylation-driven gene in lung squamous cell carcinoma [PDF]
Annals of MedicineBackground Deoxyribose nucleic acid (DNA) methylation is an important epigenetic modification that plays an important role in the occurrence and development of tumors.
Gaofeng Liang +5 more
doaj +2 more sources
Neonatal Refractory Seizures and Hyperammonemia in a Neonate With ALDH7A1 Deficiency [PDF]
Clinical Case ReportsPyridoxine‐dependent epilepsy (PDE) is a rare, autosomal recessive neurometabolic disorder characterized by intractable seizures responsive to pyridoxine.
Maryam Saeedi +3 more
doaj +2 more sources
Case report: Early (molecular) diagnosis is the clue: report on ALDH7A1 deficiency in newborns
Frontiers in GeneticsThe first-tier genetic testing for developmental and epileptic encephalopathies (DEE) is now increasingly used in routine clinical practice. Antiquitin deficiency, also referred to as pyridoxine-dependent epilepsy (PDE-ALDH7A1), represents an inherited ...
Patryk Lipiński +8 more
doaj +3 more sources
Astrocytes in Genetic Epilepsies: Supporting Actor or Key Player? [PDF]
J Neurosci ResAstrocytes contribute to the pathophysiology of acquired epilepsy. However, less is known about their contribution to genetic epilepsy syndromes which often exhibit frequent comorbidity with neurodevelopmental and psychiatric disorders. Epileptic seizures are also frequently present in neurodevelopmental disorders.
Lange J +4 more
europepmc +2 more sources
Integrative expression profiling and comparative bioinformatics analysis of ALDH7A1 in chickpea (Cicer arietinum L.) under salt and ABA treatments [PDF]
BMC Plant BiologyBackground Soil salinity and abscisic acid (ABA)-related signaling are major constraints affecting chickpea (Cicer arietinum L.) productivity by promoting oxidative stress and aldehyde accumulation.
Serap Demirel +5 more
doaj +2 more sources
Impact of missense mutations in the ALDH7A1 gene on enzyme structure and catalytic function [PDF]
Biochimie, 2021 John Tanner, David A Korasick
exaly +2 more sources
GSTP1 knockdown induces metabolic changes affecting energy production and lipid balance in pancreatic cancer cells [PDF]
Molecular & Cellular OncologyPancreatic ductal adenocarcinoma (PDAC) is an aggressive cancer with limited treatment options, underscoring the need for novel therapeutic targets. Metabolic reprogramming is a hallmark of PDAC, enabling tumor cells to sustain rapid proliferation and ...
Jenna N. Duttenhefner, Katie M. Reindl
doaj +2 more sources