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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Aldehyde dehydrogenase family 7, member A1

antiquitin, ALDH7B4, ALDH7A1
Aldehyde dehydrogenase (from NCBI)
Top mentioned proteins: ACID, PDE, CAN, HAD, AGE
Papers on antiquitin
Impaired PLP-dependent metabolism in brain samples from Huntington disease patients and transgenic R6/1 mice.
Cabiscol et al., Lleida, Spain. In Metab Brain Dis, Jan 2016
In a previous HD study, we identified several carbonylated proteins, including pyridoxal kinase and antiquitin, both of which are involved in the metabolism of pyridoxal 5´-phosphate (PLP), the active form of vitamin B6.
SAXS fingerprints of aldehyde dehydrogenase oligomers.
Tanner, Columbia, United States. In Data Brief, Dec 2015
Mutations in genes encoding ALDHs cause metabolic disorders, including alcohol flush reaction (ALDH2), Sjögren-Larsson syndrome (ALDH3A2), hyperprolinemia type II (ALDH4A1), γ-hydroxybutyric aciduria (ALDH5A1), methylmalonic aciduria (ALDH6A1), pyridoxine dependent epilepsy (ALDH7A1), and hyperammonemia (ALDH18A1).
First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene.
Mitev et al., Sofia, Bulgaria. In Neurol Sci, Dec 2015
PDE is caused by mutations in the ALDH7A1 gene.
A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients.
Yang et al., Beijing, China. In Epilepsy Res, Dec 2015
PURPOSE: Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder caused by mutations of the ALDH7A1 gene.
Annexin A1 is involved in the acquisition and maintenance of a stem cell-like/aggressive phenotype in prostate cancer cells with acquired resistance to zoledronic acid.
Petrella et al., Salerno, Italy. In Oncotarget, Oct 2015
DU145R80 show a cancer stem cell (CSC)-like signature with a high expression of CSC markers including CD44, CD133, NANOG, Snail, Oct4 and ALDH7A1 and CSC-related genes as STAT3.
Structural Basis of Substrate Recognition by Aldehyde Dehydrogenase 7A1.
Tanner et al., Columbia, United States. In Biochemistry, Oct 2015
Aldehyde dehydrogenase 7A1 (ALDH7A1) is part of lysine catabolism and catalyzes the NAD(+)-dependent oxidation of α-aminoadipate semialdehyde to α-aminoadipate.
Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.
Gospe et al., Seattle, United States. In Neurology, Oct 2015
OBJECTIVE: To investigate the role of intragenic deletions of ALDH7A1 in patients with clinical and biochemical evidence of pyridoxine-dependent epilepsy but only a single identifiable mutation in ALDH7A1.
Case Report: Intravenous and Oral Pyridoxine Trial for Diagnosis of Pyridoxine-Dependent Epilepsy.
Nordli et al., Chicago, United States. In Pediatrics, Jul 2015
Genetic testing can confirm mutations in the ALDH7A1 gene, which encodes antiquitin.
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Snead et al., Toronto, Canada. In Epilepsia, May 2015
RESULTS: Genetic causes were identified in 28% of the 110 patients: 7% had inherited metabolic disorders including pyridoxine dependent epilepsy caused by ALDH7A1 mutation, Menkes disease, pyridox(am)ine-5-phosphate oxidase deficiency, cobalamin G deficiency, methylenetetrahydrofolate reductase deficiency, glucose transporter 1 deficiency, glycine encephalopathy, and pyruvate dehydrogenase complex deficiency; 21% had other genetic causes including genetic syndromes, pathogenic copy number variants on array comparative genomic hybridization, and epileptic encephalopathy related to mutations in the SCN1A, SCN2A, SCN8A, KCNQ2, STXBP1, PCDH19, and SLC9A6 genes.
Effects of vitamin B6 metabolism on oncogenesis, tumor progression and therapeutic responses.
Kroemer et al., Paris, France. In Oncogene, 2013
As a striking example, mutations in the gene coding for antiquitin, an evolutionary old aldehyde dehydrogenase, result in pyridoxine-dependent seizures, owing to the accumulation of a metabolic intermediate that inactivates PLP.
Pyridoxine and pyridoxalphosphate-dependent epilepsies.
Plecko, Zürich, Switzerland. In Handb Clin Neurol, 2012
Among these, pyridoxine-dependent seizures due to antiquitin deficiency is by far the most common, although exact incidence data are lacking.
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
Van Hove et al., Vancouver, Canada. In Mol Genet Metab, 2011
Antiquitin (ATQ) deficiency is the main cause of pyridoxine dependent epilepsy characterized by early onset epileptic encephalopathy responsive to large dosages of pyridoxine.
[Role of genetics in prediction of osteoporosis risk].
Zofková, Praha, Czech Republic. In Vnitr Lek, 2011
Recently discovered genes related to bone phenotype include identified genes for hypolactasia, tetrafolate reductase and ALDH7A1.
Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress.
Vasiliou et al., Aurora, United States. In J Biol Chem, 2010
ALDH7A1 is a novel aldehyde dehydrogenase expressed in multiple subcellular compartments that protects against hyperosmotic stress by generating osmolytes and metabolizing toxic aldehydes
Gene array profiles of alcohol and aldehyde metabolizing enzymes in brains of C57BL/6 and DBA/2 mice.
Tabakoff et al., Aurora, United States. In Alcohol Clin Exp Res, 2006
The expression intensity for the aldehyde dehydrogenase 7A1 (ALDH7A1) mRNA and protein was significantly higher in C57BL/6 mice than DBA/2 mice.
Over-expression of different aldehyde dehydrogenase genes in Arabidopsis thaliana confers tolerance to abiotic stress and protects plants against lipid peroxidation and oxidative stress.
Bartels et al., Bonn, Germany. In Plant Cell Environ, 2006
Constitutive or stress-inducible expression of ALDH7B4 confers tolerance to osmotic and oxidative stress.
Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
Clayton et al., London, United Kingdom. In Nat Med, 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.
Pyridoxine-Dependent Epilepsy
Gospe, Seattle, United States. In Unknown Journal, 2002
ALDH7A1 is the only gene in which pathogenic variants are known to cause pyridoxine-dependent epilepsy.
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