Results 11 to 20 of about 3,184 (187)

ALDH7A1 rs12514417 polymorphism may increase ischemic stroke risk in alcohol-exposed individuals

Nutrition & Metabolism, 2022
Background: Epidemiological studies have identified common risk factors for cerebral stroke worldwide. Some of these factors include hypertension, diabetes, smoking, excessive drinking, and dyslipidemia.
Chun-Hsiang Lin, Oswald Ndi Nfor, Chien-Chang Ho, Shu-Yi Hsu, Disline Manli Tantoh, Yi-Chia Liaw, Daria Mochly-Rosen, Che-Hong Chen, Yung-Po Liaw   +8 more
doaj   +3 more sources

Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes [PDF]

Molecular Genetics and Metabolism Reports, 2022
Background: Little is known about pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency (PDE-ALDH7A1) in adulthood, as the genetic basis of the disorder has only been elucidated 15 years ago.
L.A. Tseng, L. Teela, M.C. Janssen, L.A. Bok, M.A.A.P. Willemsen, R.F. Neuteboom, L. Haverman, S.M. Gospe, Jr, C.R. Coughlin, 2nd, C.D.M. van Karnebeek   +9 more
doaj   +3 more sources

ALDH7A1 Deficiency and Pyridoxine-Dependent Epilepsy

Pediatric Neurology Briefs, 2010
Researchers at University College and Great Ormond Street Hospital for Children, London, and other centers in the UK and Europe investigated the genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (PDE) by measurement of urinary alpha ...
J Gordon Millichap
doaj   +3 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   +2 more sources

Aldehyde dehydrogenase 7A1 (ALDH7A1) attenuates reactive aldehyde and oxidative stress induced cytotoxicity [PDF]

Chemico-Biological Interactions, 2011
Mammalian aldehyde dehydrogenase 7A1 (ALDH7A1) is homologous to plant ALDH7B1 which protects against various forms of stress such as increased salinity, dehydration and treatment with oxidants or pesticides. Deleterious mutations in human ALDH7A1 are responsible for pyridoxine-dependent and folinic acid-responsive seizures. In previous studies, we have
Chad N Brocker, Paola Failli, Vasilis Vasiliou   +2 more
exaly   +4 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

Aldehyde Dehydrogenase 7A1 (ALDH7A1) Is a Novel Enzyme Involved in Cellular Defense against Hyperosmotic Stress [PDF]

Journal of Biological Chemistry, 2010
Mammalian ALDH7A1 is homologous to plant ALDH7B1, an enzyme that protects against various forms of stress, such as salinity, dehydration, and osmotic stress. It is known that mutations in the human ALDH7A1 gene cause pyridoxine-dependent and folic acid-responsive seizures.
Chad N Brocker, Aglaia Pappa, Valeria V Orlova   +2 more
exaly   +4 more sources

Atypical pyridoxine dependent epilepsy resulting from a new homozygous missense mutation, in ALDH7A1 [PDF]

Seizure: the Journal of the British Epilepsy Association, 2018
Pyridoxine dependent epilepsy (PDE) is a rare autosomal recessive neurometabolic disorder. In the classical form, seizures are observed within the first month of life, while in the atypical form seizures appear later in life, sometimes as late as at the age of 3 years of life.
Eliane Chouery, André Mégarbané
exaly   +3 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 ...
Mustafa A. Salih, Albandary AlBakheet, Rawan Almass, Ahlam A. A. Hamed, Ali AlOdaib, Namik Kaya   +5 more
doaj   +2 more sources

Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency

International Journal of Molecular Sciences, 2022
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive developmental and epileptic encephalopathy caused by pathogenic variants in the ALDH7A1 gene (PDE-ALDH7A1), which mainly has its onset in neonates and infants. Early diagnosis and treatment are crucial to prevent severe neurological sequelae or death.
Hans-Otto Böhm, Mazyar Yazdani, Elise Mørk Sandås   +2 more
exaly   +3 more sources