Эпилепсия и пароксизмальные состояния, 2019 The article presents a clinical case of severe infantile generalized idiopathic epilepsy with status-like seizures, muscular dystonia and developmental delay.
T. V. Kozhanova +6 more
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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
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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
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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
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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
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Impact of missense mutations in the ALDH7A1 gene on enzyme structure and catalytic function. [PDF]
Biochimie, 2021 Korasick DA, Tanner JJ.
europepmc +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
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Integrative multi-omics analyses identify PKD1 and SLC2A4 as genetically supported glycolysis-related candidate genes for rheumatoid arthritis [PDF]
Frontiers in ImmunologyIntroductionGlycolytic reprogramming has been implicated in rheumatoid arthritis (RA) pathogenesis, yet the underlying causal genes and epigenetic mechanisms remain unclear.
Xinyu A +24 more
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