Results 91 to 100 of about 423 (120)

Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect. [PDF]

Mol Genet Metab Rep
Bottino M, Boyer M, Steenari MR, Barrick R, Abdenur JE.   +4 more
europepmc   +1 more source

Catalase and antiquitin from Euphorbia characias: Two proteins involved in plant defense?

Biochemistry (Moscow), 2007
Here we report the cDNA nucleotide sequences of a calmodulin-binding catalase and an antiquitin from the latex of the Mediterranean shrub Euphorbia characias. Present findings suggest that catalase and antiquitin might represent additional nodes in the Euphorbia defense systems, and a multi-enzymatic interaction contributing to plant's protection ...
Rosaria Medda, Andrea Rinaldi, Francesca Pintus   +2 more
exaly   +5 more sources

Cloning of the black seabream (Acanthopagrus schlegeli) antiquitin gene and functional characterization of its promoter region

Molecular and Cellular Biochemistry, 2006
Antiquitin (ALDH7) is a member of the aldehyde dehydrogenase superfamily. In plants, ALDH7 is inducible upon dehydration and is thus believed to possess an osmoregulatory role. On the other hand, however, its exact physiological function in animals remains elusive.
Christopher H K Cheng, Wing-Ping Fong
exaly   +7 more sources

Human antiquitin: Structural and functional studies

Chemico-Biological Interactions, 2011
Antiquitin (ALDH7) is a member of the aldehyde dehydrogenase superfamily which oxidizes various aldehydes to form the corresponding carboxylic acids. Human antiquitin (ALDH7A1) is believed to play a role in detoxification, osmoregulation and more specifically, in lysine metabolism in which alpha-aminoadipic semialdehyde is identified as the specific ...
Wing-Ping Fong
exaly   +4 more sources

Pyridoxine dependent epilepsy and antiquitin deficiency

Molecular Genetics and Metabolism, 2011
Antiquitin (ATQ) deficiency is the main cause of pyridoxine dependent epilepsy characterized by early onset epileptic encephalopathy responsive to large dosages of pyridoxine. Despite seizure control most patients have intellectual disability. Folinic acid responsive seizures (FARS) are genetically identical to ATQ deficiency.
Sylvia Stockler, Barbara Plecko, Sidney M. Gospe, Marion Coulter-Mackie, Mary Connolly, Clara van Karnebeek, Saadet Mercimek-Mahmutoglu, Hans Hartmann, Gunter Scharer, Eduard Struijs, Ingrid Tein, Cornelis Jakobs, Peter Clayton, Johan L.K. Van Hove   +13 more
core   +5 more sources

Antiquitin Deficiency with Adolescent Onset Epilepsy: Molecular Diagnosis in a Mother of Affected Offsprings

Neuropediatrics, 2018
AbstractAntiquitin deficiency is the most prevalent form of pyridoxine-dependent epilepsy. While most patients present with neonatal onset of therapy-resistant seizures, a few cases with late-onset during infancy have been described. Here, we describe the juvenile onset of epilepsy at the age of 17 years due to antiquitin deficiency in an Indian female
Srinivasaraghavan, Rangan, Parameswaran, Narayanan, Mathis, Deborah, Bürer, Celine, Plecko, Barbara   +4 more
openaire   +5 more sources

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Antiquitin, a relatively unexplored member in the superfamily of aldehyde dehydrogenases with diversified physiological functions

Cellular and Molecular Life Sciences, 2006
Antiquitin is a member of the aldehyde dehydrogenase superfamily. Sequence analyses indicate that the protein is highly conserved from plants to animals. The plant antiquitins are generally believed to play a role in osmoregulation and/or detoxification.
Christopher H K Cheng
exaly   +3 more sources

Pyridoxine‐dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome

Epileptic Disorders, 2013
ABSTRACT We report 4 pyridoxine‐dependent epilepsy patients in which good outcome was determined in three. The 4 patients were male and aged from 7 to 24 years old (from three unrelated Caucasian families). A clinical diagnosis of neonatal pyridoxine‐dependent epilepsy was confirmed by biochemical and genetic studies.
Oliveira, R., Pereira, C., Rodrigues, F., Alfaite, C., Garcia, P., Robalo, C., Fineza, I., Goncalves, O., Struys, E.A., Salomons, G.S., Jakobs, C.A.J.M., Diogo, L.   +11 more
exaly   +4 more sources