Results 1 to 10 of about 2,219 (171)

Case report: Clinical and genetic characterization of a novel ALDH7A1 variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two siblings [PDF]

Frontiers in Psychiatry
BackgroundPathogenic variants in ALDH7A1 are associated with pyridoxine-dependent epilepsy (PDE), a rare autosomal recessive disorder characterized by epileptic seizures, unresponsiveness to standard antiseizure medications (ASM), and a response only to ...
Namik Kaya, Rawan Almass
exaly   +6 more sources

A novel therapy for pyridoxine-dependent epilepsy due to biallelic pathogenic variants in : secondary mitochondrial energy deficiency and improvements of neurodevelopmental outcomes on triheptanoin treatment [PDF]

Therapeutic Advances in Rare Disease
Background: Pyridoxine-dependent epilepsy (PDE) due to biallelic pathogenic variants in ALDH7A1 (PDE-ALDH7A1) is an metabolic disease of lysine catabolism.
Anastasia Ambrose, Morganne McCabe, Shalini Bahl, David Sinasac, Thomas Snyder, Saadet Mercimek-Andrews   +5 more
doaj   +3 more sources

Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS/MS Workflow [PDF]

International Journal of Neonatal Screening
Pyridoxine-dependent epilepsy (PDE) represents a group of rare developmental and epileptic encephalopathies. The most common PDE is caused by biallelic pathogenic variants in ALDH7A1 (PDE-ALDH7A1; OMIM #266100), which encodes α-aminoadipate semialdehyde (
Mylène Donge, Sandrine Marie, Amandine Pochet, Lionel Marcelis, Geraldine Luis, François Boemer, Clément Prouteau, Samir Mesli, Matthias Cuykx, Thao Nguyen-Khoa, David Guénet, Aurélie Empain, Magalie Barth, Benjamin Dauriat, Cécile Laroche-Raynaud, Corinne De Laet, Patrick Verloo, An I. Jonckheere, Manuel Schiff, Marie-Cécile Nassogne, Joseph P. Dewulf   +20 more
doaj   +3 more sources

Identification of ALDH7A1 as a DNA-methylation-driven gene in lung squamous cell carcinoma [PDF]

Annals of Medicine
Background Deoxyribose nucleic acid (DNA) methylation is an important epigenetic modification that plays an important role in the occurrence and development of tumors.
Gaofeng Liang, Jinxian He, Tian Chen, Liang Zhang, Kaizhong Yu, Weiyu Shen   +5 more
doaj   +4 more sources

RASGEF1B suppresses hepatocellular carcinoma through the ALDH7A1/Betaine/SNAI1 metabolic‒epigenetic axis [PDF]

Journal of Translational Medicine
Background Metabolic‒epigenetic crosstalk critically orchestrates hepatocellular carcinoma (HCC) pathogenesis. Deciphering the precise mechanism underlying epigenetic remodeling and metabolic reprogramming in HCC may lead to novel treatment paradigms ...
Zeyi Guo, Kunjiang Tan, Zhongzhe Li, Yaguang Ren, Yizhe Dai, Meixian Jin, Yu Fu, Yukai Hu, Jinhao Guo, Min Zhang, Chengbo Liu, Shunjun Fu, Feng Shen   +12 more
doaj   +5 more sources

Case report: Early (molecular) diagnosis is the clue: report on ALDH7A1 deficiency in newborns

Frontiers in Genetics
The 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 ...
Dorota Hoffman-Zacharska, Patryk Lipinski, Anna Bogdanska   +2 more
exaly   +5 more sources

Targeting ALDH7A1 with covalent inhibitors reveals new chemical space for prostate cancer therapy [PDF]

Journal of Enzyme Inhibition and Medicinal Chemistry
Prostate cancer (PCa) remains a major global health burden. Although androgen deprivation and receptor-targeted therapies initially benefit patients, resistance often leads to metastatic castration-resistant prostate cancer, with limited treatment ...
Raffaella Gallo, Antonio Scarano, Eleonora Gianquinto, Gaia Franzini, Giulia Antonini, Serena Montalbano, Camillo Palmieri, Paola Conti, Francesca Spyrakis, Chiara Borsari, Stefano Bruno   +10 more
doaj   +2 more sources

Classical and Emerging Biomarkers in Pyridoxine-Dependent Epilepsy (PDE-ALDH7A1): Implications for Early Diagnosis and Therapeutic Development [PDF]

Biomolecules
Pyridoxine-dependent epilepsy due to ALDH7A1 deficiency (PDE-ALDH7A1) is a rare but treatable epileptic encephalopathy caused by disruption of lysine catabolism and secondary depletion of pyridoxal-5′-phosphate (PLP).
Muna Abedrabbo, Safiya Al Yazeedi, Blair R. Leavitt, Hilal Al-Shekaili   +3 more
doaj   +2 more sources

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 Discovery
Thermal ablation offers minimally invasive treatment options for hepatocellular carcinoma (HCC) therapy. However, local recurrence due to sublethal temperatures enhances tumor cell survival.
Hao Li, Shuguang Ju, Jiacheng Wang, Donglin Kuang, Pengfei Chen, Mengfan Zhang, Ruijie Qian, Chao Liang, Daqian Han, Xuhua Duan   +9 more
doaj   +2 more sources

Targeting AASS alleviates neurotoxicity and improves mitochondrial function in astrocyte models for pyridoxine-dependent epilepsy [PDF]

Molecular Therapy: Nucleic Acids
Pyridoxine-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, Udo Engelke, Muna Abedrabbo, Sofía Puvogel, Rachel Mijdam, Gijs-Jan Scholten, Sara B. van Katwijk, Astrid Oudakker, Hilal H. Al-Shekaili, Dirk J. Lefeber, Blair R. Leavitt, Clara D.M. van Karnebeek, Nael Nadif Kasri, Alejandro Garanto   +13 more
doaj   +2 more sources