Results 91 to 100 of about 2,694,828 (149)

Diethylaminobenzaldehyde Is a Covalent, Irreversible Inactivator of ALDH7A1

, 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.
Kent S. Gates (1310250), Michael T. Henzl (1355046), John J. Tanner (1333191), Min Luo (258201)   +3 more
core   +1 more source

Pyridoxine-dependent epilepsy in two Turkish patients in Turkey and review of the literature

The Turkish Journal of Pediatrics, 2015
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive enzyme defect in the vitamin B6 metabolism characterized by intractable seizures which are usually resistant to all antiepileptic drugs but respond to pharmacological doses of ...
Gülen Gül-Mert, Faruk İncecik, M Özlem Hergüner, Serdar Ceylaner, Şakir Altunbaşak   +4 more
doaj  

Population-specific differences in ClinVar pathogenic and likely pathogenic variants of epilepsy-associated genes between East Asian and non-finnish European populations: a nucleotide-resolved gnomAD v4.1.1 analysis

Frontiers in Genetics
Pathogenic and likely pathogenic (P/LP) variants in ClinVar guide variant interpretation in clinical genetic testing, yet their population-specific frequency differences have not been systematically examined in epilepsy.
Jin-Xing Lai, Jin-Xing Lai, Ming-Feng He, Zhi-Cong Fan, Fu-Jiang Yan, Bao-Zhu Guan, Xiang-Hong Liu   +6 more
doaj   +1 more source

Metabolomics analysis of kidney, brain, liver, and plasma from Aldh7a1-/- and Aldh7a1+/+ mice.

Metabolite analysis of kidney, brain, liver, and plasma isolated from Aldh7a1+/+ and Aldh7a1-/- (n=3/each) fed diets consisting of 0.9% w/w lysine and 18 ppm pyridoxine.
Parker, S (via Mendeley Data), Parker, Seth   +1 more
core   +1 more source

Investigating vitamin B6-dependent epileptic encephalopathies in human patients and a mouse model

, 2020
PLPHP deficiency is a recently discovered form of vitamin B6-dependent epilepsies (B6Es) that is caused by recessive mutations in PLPBP. PLPHP is involved in pyridoxal 5’-phosphate (PLP) homeostatic regulation.
Al Shekaili, Hilal Hamed
core   +1 more source

Mutations in the aldh7a1 gene cause pyridoxine-dependent seizures

Arquivos de Neuro-Psiquiatria, 2008
Jasper V. Been, Levinus A. Bok, Michèl A.A.P. Willemsen, Eduard A. Struys, Cornelis Jakobs   +4 more
doaj   +1 more source

Astrocyte redox imbalance underlies prelimbic neuronal hypoactivity and maladaptive affective behaviors in epilepsy. [PDF]

Sci Adv
Faust TE, Saito A, Ishikawa S, Yang K, Xin W, Namkung H, Agarwal A, Ramos A, Lee BJ, Hayes L, Srivastava R, Adelakun S, Saha S, Palen T, Cash-Padgett T, Wood DJ, Carloni E, Yusa R, Jaaro-Peled H, Fahey JW, Bergles DE, Ishizuka K, Sawa A.   +22 more
europepmc   +1 more source

Bis-(di-4-phenyl-benzylaminethiocarbonyl)disulfide sensitizes ABCC2/ALDH3A1 overexpressing NSCLC cells to cisplatin. [PDF]

Cancer Biol Ther
Kryczka J, Kryczka JM, Janczewski Ł, Shimida S, Frączyk A, Kolesińska B, Boncela J, Brzeziańska-Lasota E.   +7 more
europepmc   +1 more source

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

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 ...
Nael Nadif Kasri, Clara D.M. van Karnebeek, Imke M.E. Schuurmans, Alejandro Garanto, Anita D.M. Hoogendoorn, Karnebeek, C.D.M. van, Nadif Kasri, N., Schuurmans, I.M.E., Garanto, A., Hoogendoorn, A.D.M.   +9 more
core   +1 more source

Integrative expression profiling and comparative bioinformatics analysis of ALDH7A1 in chickpea (Cicer arietinum L.) under salt and ABA treatments. [PDF]

BMC Plant Biol
Demirel S, İncetekin M, Say A, Özaktan H, Gürcan K, Demirel F.   +5 more
europepmc   +1 more source