Results 101 to 110 of about 423 (120)

Overexpression of recombinant human antiquitin in E. coli: Partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy

Molecular Genetics and Metabolism, 2014
Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive disorder characterized by early onset seizures responsive to pyridoxine and caused by a defect in the α-aminoadipic semialdehyde dehydrogenase (antiquitin) gene (ALDH7A1). We selected four PDE-associated missense ALDH7A1 mutations, p.V367F, p.F410L, p.Q425R, and p.C450S, generated them in a ...
Coulter-Mackie, Marion B., Tiebout, Sylvia, van Karnebeek, Clara, Stockler, Sylvia   +3 more
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Purification, N-terminal sequence determination and enzymatic characterization of antiquitin from the liver of grass carp

Comparative Biochemistry and Physiology - B Biochemistry and Molecular Biology, 2003
Aldehyde dehydrogenase (ALDH) is a superfamily of enzymes catalyzing the conversion of various aldehydes to the corresponding acids using the coenzymes NAD+ or NADP+. While mammalian ALDHs have been studied extensively, the non-mammalian ALDHs, notably those of teleostean origin, remain relatively unexplored.
Christopher H K Cheng, Wing-Ping Fong
exaly   +3 more sources

Ectopic expression of BrALDH7B2 gene encoding an antiquitin from Brassica rapa confers tolerance to abiotic stresses and improves photosynthetic performance under salt stress in tobacco

Environmental and Experimental Botany, 2020
Abstract Improved plant performance under salt and drought stresses has been a challenging task to the plant due to the complexity and multitude of genes that govern them. We describe here, isolation and characterization of an aldehyde dehydrogenase gene (BrALDH7B2) that encodes an antiquitin isolated from Brassica rapa.
P B Kirti, Rajesh Kumar Meena, Ranjana Gautam   +2 more
exaly   +2 more sources

Use of lysine reduction therapies in patients with pyridoxine dependent epilepsy due to Antiquitin deficiency – A cohort study

Molecular Genetics and Metabolism
Pyridoxine dependent epilepsy due to Antiquitin deficiency (PDE-ALDH7A1) is a disorder of lysine catabolism that results in accumulation of α- aminoadipic semialdehyde (α-AASA) and Δ1-piperideine 6-carboxylic acid (P6C). It is hypothesised that these metabolites are neurotoxic and that chronic exposure may have detrimental long-term effects ...
Emma J, Footitt, Chloe, Millington, Imogen, Newsom-Davis, Philippa, Mills, Youssef, Khalil, Peter T, Clayton, Marjorie, Dixon   +6 more
core   +4 more sources

Is antiquitin a mitochondrial Enzyme?

Journal of Cellular Biochemistry, 2009
AbstractAntiquitin is an aldehyde dehydrogenase involved in the catabolism of lysine. Mutations of antiquitin have been linked with the disease pyridoxine‐dependent seizures. While it is well established that lysine metabolism takes place in the mitochondrial matrix, evidence for the mitochondrial localization of antiquitin has been lacking.
Judy Wei-Yan, Wong, Chi-Lung, Chan, Wai-Kwan, Tang, Christopher Hon-Ki, Cheng, Wing-Ping, Fong   +4 more
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Structural and mutational analysis of antiquitin as a candidate gene for Menière disease

American Journal of Medical Genetics, 2002
Published in American Journal of Medical Genetics.
Lynch, M., Cameron, T., Knight, M., Kwok, T., Thomas, P., Forrest, S., Giersch, A., Briggs, R., Pyman, B.   +8 more
openaire   +3 more sources

Pyridoxine-dependent epilepsy owing to antiquitin deficiency — mutation in theALDH7A1gene

Paediatrics and International Child Health, 2013
Pyridoxine-dependent epilepsy (PDE) is an inborn error of metabolism resulting from antiquitin deficiency. There is marked elevation of α-amino adipic semi-aldehyde (αAASA), piperidine-6-carboxylate (P6C) and pipecolic acid. The diagnosis can be confirmed by identifying the mutation in the ALDH7A1 gene in chromosome 5q3l.
Jagadeesh, S., Suresh, B., Murugan, V., Suresh, S., Salomons, G.S., Struys, E.A., Jacobs, C.   +6 more
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Mild hyperammonemia due to Antiquitin deficiency

, 2019
Kasapkara, Çiğdem Seher, kılıç, mustafa, EZGÜ, FATİH SÜHEYL, aksoy, ayşe, OLGAÇ, MUAZZEZ ASBURÇE BİKE   +4 more
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MG-134 Update on novel treatments for pyridoxine-dependent epilepsy due to antiquitin deficiency

Biochemical/Metabolic Genetics and Clinical Genetics, 2015
Background and objectives Seventy-five percent of patients with pyridoxine-dependent epilepsy (PDE) due to Antiquitin (ATQ) deficiency suffer developmental delay and/or intellectual disability (IQ). Methods In two open-label observational studies, seven children with confirmed ATQ deficiency were started on dietary lysine restriction with regular ...
Clara DM van Karnebeek, W Al-Hertani, S Jaggumantri, C Coughlin, S Stockler, H Hans Hartmann, J Van Hove   +6 more
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Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene

Human Mutation, 2006
Patients with pyridoxine dependent epilepsy (PDE) present with early-onset seizures resistant to common anticonvulsants. According to the benefit of pyridoxine (vitamin B(6)) and recurrence of seizures on pyridoxine withdrawal, patients so far have been classified as having definite, probable, or possible PDE.
Barbara, Plecko, Karl, Paul, Eduard, Paschke, Sylvia, Stoeckler-Ipsiroglu, Eduard, Struys, Cornelis, Jakobs, Hans, Hartmann, Thomas, Luecke, Matteo, di Capua, Christoph, Korenke, Christiane, Hikel, Elke, Reutershahn, Michael, Freilinger, Fritz, Baumeister, Friedrich, Bosch, Wolfgang, Erwa   +15 more
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