Results 21 to 30 of about 2,219 (171)

Diethylaminobenzaldehyde Is a Covalent, Irreversible Inactivator of ALDH7A1

ACS Chemical Biology, 2015
There is growing interest in aldehyde dehydrogenases (ALDHs) because of their overexpression in cancer stem cells and the ability to mediate resistance to cancer drugs. Here, we report the first crystal structure of an aldehyde dehydrogenase complexed with the inhibitor 4-diethylaminobenzaldehyde (DEAB).
Min, Luo, Kent S, Gates, Michael T, Henzl, John J, Tanner   +3 more
openaire   +3 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

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

Generation of hiPSC lines from four pyridoxine-dependent epilepsy (PDE) patients carrying the variant c.1279G>C in ALDH7A1 in homozygosis

Stem Cell Research
ALDH7A1 encodes for the enzyme catalyzing the third step of the lysine degradation pathway. Biallelic pathogenic variants in ALDH7A1 are associated with pyridoxine dependent epilepsy (PDE), of which the c.1279G>C (p.Glu427Gln) variant is the most ...
Imke M.E. Schuurmans, Clara D.M. van Karnebeek, Anita D.M. Hoogendoorn, Nael Nadif Kasri, Alejandro Garanto   +4 more
doaj   +2 more sources

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy [PDF]

Journal of Inherited Metabolic Disease, 2018
AbstractPyridoxine dependent epilepsy (PDE) is a treatable epileptic encephalopathy characterized by a positive response to pharmacologic doses of pyridoxine. Despite seizure control, at least 75% of individuals have intellectual disability and developmental delay. Current treatment paradigms have resulted in improved cognitive outcomes emphasizing the
Curtis R. Coughlin, Michael A. Swanson, Elaine Spector, Naomi J. L. Meeks, Kathryn E. Kronquist, Mezhgan Aslamy, Michael F. Wempe, Clara D. M. van Karnebeek, Sidney M. Gospe, Verena G. Aziz, Becky P. Tsai, Hanlin Gao, Peter L. Nagy, Keith Hyland, Silvy J. M. van Dooren, Gajja S. Salomons, Johan L. K. Van Hove   +16 more
openaire   +5 more sources

Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study [PDF]

Frontiers in Neurology
ObjectiveTo 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, Xin Zhang, Shiyan Qiu, Li Yang, Xin Li, Dongyu Shi   +5 more
doaj   +2 more sources

Astrocytes in Genetic Epilepsies: Supporting Actor or Key Player? [PDF]

J Neurosci Res
Astrocytes 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, Zhao E, O'Connell E, Gillham O, McTague A.   +4 more
europepmc   +2 more sources

Mutation of the ALDH7A1 gene in a patient with pyridoxal phosphate-dependent neonatal epileptic encephalopathy: a clinical case

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, S. S. Zhilina, T. I. Mescheryakova, E. G. Lukyanova, K. V. Osipova, S. O. Ayvazyan, A. G. Prityko   +6 more
doaj   +2 more sources

Analysis of the Phenotypic Variability as Well as Impact of Early Diagnosis and Treatment in Six Affected Families With ALDH7A1 Deficiency

Frontiers in Genetics, 2021
ObjectiveTo describe the clinical characteristics of 12 patients from six families with pyridoxine-dependent epilepsy (PDE) carrying ALDH7A1 mutations, and analyze the impact of early diagnosis and treatment, as well as possible genotype–phenotype ...
Zhixian Yang, Yuehua Zhang
exaly   +3 more sources