Results 91 to 100 of about 426 (124)

Neurologist's Black Swan: Molecular Basis of Prenatal Seizures. [PDF]

Int J Mol Sci
Kustova AO, Medyanik AD, Anisimova PE, Tarabykin VS, Kondakova EV.   +4 more
europepmc   +1 more source

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

Mutations in Antiquitin in Individuals With Pyridoxine-Dependent Seizures

Nature Medicine, 2006
We show here that children with pyridoxine-dependent seizures (PDS) have mutations in the ALDH7A1 gene, which encodes antiquitin; these mutations abolish the activity of antiquitin as a delta1-piperideine-6-carboxylate (P6C)-alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase.
Peter Theodore Clayton, Barbara Plecko, Matthias R Baumgartner   +2 more
exaly   +8 more sources

Seabream Antiquitin: Molecular Cloning, Tissue Distribution, Subcellular Localization and Functional Expression [PDF]

FEBS Letters, 2005
Subsequent to our earlier report on the first purification of antiquitin protein from seabream liver and demonstration of its enzymatic activity [FEBS Letters 516 (2002) 183–186], we report herein the cloning of its full‐length cDNA sequence. The open reading frame encodes a protein of 511 amino acids.
Christopher Cheng, Wing-Ping Fong, Chi-Bun Chan   +2 more
exaly   +7 more sources

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 C. Rinaldi, Francesca Pintus   +2 more
exaly   +5 more sources

The Crystal Structure of Seabream Antiquitin Reveals the Structural Basis of Its Substrate Specificity [PDF]

FEBS Letters, 2008
The crystal structure of seabream antiquitin in complex with the cofactor NAD+ was solved at 2.8 Å resolution. The mouth of the substrate‐binding pocket is guarded by two conserved residues, Glu120 and Arg300. To test the role of these two residues, we have prepared the two mutants E120A and R300A.
Christopher Cheng, Wing-Ping Fong, Sun-Shin Cha   +2 more
exaly   +4 more sources

New Insights Into Human Lysine Degradation Pathways With Relevance to Pyridoxine-Dependent Epilepsy Due to Antiquitin Deficiency [PDF]

Journal of Inherited Metabolic Disease, 2019
AbstractDeficiency of antiquitin (ATQ), an enzyme involved in lysine degradation, is the major cause of vitamin B6‐dependent epilepsy. Accumulation of the potentially neurotoxic α‐aminoadipic semialdehyde (AASA) may contribute to frequently associated developmental delay. AASA is formed by α‐aminoadipic semialdehyde synthase (AASS) via the saccharopine
Déborah Mathis, Barbara Plecko, Lisa M Crowther   +2 more
exaly   +7 more sources

An Ancient Conserved Gene Expressed in the Human Inner Ear: Identification, Expression Analysis, and Chromosomal Mapping of Human and Mouse Antiquitin (ATQ1)

Genomics, 1997
We constructed and screened a human fetal cochlear cDNA library to identify genes involved in hearing and deafness. From this library we isolated a cDNA corresponding to the highly conserved ancient gene antiquitin (ATQ1). The plant homolog of ATQ1 is thought to be involved in regulating turgor pressure, a function that also would be essential for ...
David R Beier, Frederick R Bieber, Cynthia C. Morton   +2 more
exaly   +5 more sources