Stem Cell Research, 2023 Biallelic pathogenic variants in ALDH7A1 are associated with pyridoxine-dependent epilepsy (PDE). ALDH7A1 encodes for the third enzyme of the lysine catabolism pathway.
Imke M.E. Schuurmans +4 more
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PLoS ONE, 2021 BackgroundPyridoxine-dependent epilepsy (PDE) is due to biallelic variants in ALDH7A1 (PDE-ALDH7A1). ALDH7A1 encodes α-aminoadipic semialdehyde dehydrogenase in lysine catabolism.
Anastasia Minenkova +7 more
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Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology. [PDF]
PLoS ONE, 2017 Pyridoxine dependent epilepsy (PDE) is caused by likely pathogenic variants in ALDH7A1 (PDE-ALDH7A1) and inherited autosomal recessively. Neurotoxic alpha-amino adipic semialdehyde (alpha-AASA), piperideine 6-carboxylate and pipecolic acid accumulate in ...
Nikita Zabinyakov +8 more
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The impact of ALDH7A1 variants in oral cancer development and prognosis
Aging, 2022 The gene encoding aldehyde dehydrogenase 7 family member A1 (ALDH7A1) has been associated with the development and prognosis in multiple cancers; however, the role of ALDH7A1 polymorphisms in oral cancer remains unknown. For this purpose, the influences of ALDH7A1 rs13182402 and rs12659017 on oral cancer development and prognosis were analyzed.
Lu, Hsueh-Ju +9 more
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Pyridoxine‐dependent epilepsy: Current perspectives and questions for future research
Annals of the Child Neurology Society, 2023 Pyridoxine‐dependent epilepsy (PDE) was historically defined by a dramatic clinical response to a trial of pyridoxine and the re‐emergence of seizures after withdrawal of pyridoxine.
Curtis R. Coughlin II +1 more
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Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency) [PDF]
Brain, 2010 Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of l-alpha-aminoadipic semialdehyde/L-Delta1-piperideine 6-carboxylate.
Mills, Philippa B +22 more
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First patient in Serbia with biochemically and genetically diagnosed pyridoxine-dependent epilepsy [PDF]
Vojnosanitetski Pregled, 2017 Introduction. Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive inborn error of metabolism present with early-onset seizures resistant to common anticonvulsants.
Ješić Miloš M. +3 more
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BMC Cancer, 2018 Background Changes in cellular metabolism are now recognized as potential drivers of cancer development, rather than as secondary consequences of disease.
Diana Andrejeva +7 more
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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 +3 more
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Dysregulated Choline, Methionine, and Aromatic Amino Acid Metabolism in Patients with Wilson Disease: Exploratory Metabolomic Profiling and Implications for Hepatic and Neurologic Phenotypes. [PDF]
, 2019 Wilson disease (WD) is a genetic copper overload condition characterized by hepatic and neuropsychiatric symptoms with a not well-understood pathogenesis.
Czlonkowska, Anna +6 more
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