Results 1 to 10 of about 1,815 (133)

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

ALDH7A1 protects against ferroptosis by generating membrane NADH and regulating FSP1 [PDF]

Cell
Ferroptosis is a form of cell death due to iron-induced lipid peroxidation. Ferroptosis suppressor protein 1 (FSP1) protects against this death by generating antioxidants, which requires nicotinamide adenine dinucleotide, reduced form (NADH) as a cofactor.
Koki Kamizaki, Jia-Shu Yang
exaly   +4 more sources

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, Albandary Albakheet   +2 more
exaly   +4 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

aldh7a1 regulates eye and limb development in zebrafish. [PDF]

PLoS ONE, 2014
Uveal coloboma is a potentially blinding congenital ocular malformation caused by failure of the optic fissure to close during development. Although mutations in numerous genes have been described, these account for a minority of cases, complicating ...
Holly E Babcock, Sunit Dutta, Ramakrishna P Alur, Chad Brocker, Vasilis Vasiliou, Susan Vitale, Mones Abu-Asab, Brian P Brooks   +7 more
doaj   +4 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

Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency [PDF]

Genetics, 2017
AbstractPyridoxine-dependent epilepsy (PDE) is a severe neonatal seizure disorder and is here modeled in aldh7a1 -/- zebrafish. Mutant larvae display spontaneous..Pyridoxine-dependent epilepsy (PDE) is a rare disease characterized by mutations in the lysine degradation gene ALDH7A1 leading to recurrent neonatal seizures, which are uniquely alleviated ...
Pena Ia, Marc Ekker, David Dyment
exaly   +6 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

Neonatal Refractory Seizures and Hyperammonemia in a Neonate With ALDH7A1 Deficiency. [PDF]

Clin Case Rep
ABSTRACTPyridoxine‐dependent epilepsy (PDE) is a rare, autosomal recessive neurometabolic disorder characterized by intractable seizures responsive to pyridoxine. We present the case of an 11‐day‐old female neonate with a history of refractory multifocal seizures beginning on day three of life, accompanied by hepatomegaly, metabolic acidosis, elevated ...
Saeedi M, Mirnia K, Sedighzadeh S, Sangsari R.   +3 more
europepmc   +4 more sources