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aspartoacylase, ASPA
This gene encodes an enzyme that catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate. NAA is abundant in the brain where hydrolysis by aspartoacylase is thought to help maintain white matter. This protein is an NAA scavenger in other tissues. Mutations in this gene cause Canavan disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: ACID, CAN, AGE, HAD, V1a
Papers on aspartoacylase
Purification and characterization of aspartate N-acetyltransferase: A critical enzyme in brain metabolism.
Viola et al., Toledo, United States. In Protein Expr Purif, Mar 2016
Numerous mutations have been found in the enzyme that hydrolyzes NAA, and the catalytic activity of aspartoacylase is significantly impaired in CD patients.
PSA-NCAM positive neural progenitors stably expressing BDNF promote functional recovery in a mouse model of spinal cord injury.
Leschik et al., Mainz, Germany. In Stem Cell Res Ther, Dec 2015
Stem cell differentiation in vivo revealed an increase of neuronal and oligodendrocytic lineage differentiation by BDNF as evaluated by immunohistochemistry of the neuronal marker MAP2 (microtubule associated protein 2) and the oligodendrocytic markers ASPA (aspartoacylase) and Olig2 (oligodendrocyte transcription factor 2). Furthermore, axonal tracing showed a significant increase of biotin dextran amine positive corticospinal tract fibers in BDNF-GFP-cell transplanted animals caudally to the lesion site.
Novel mutation in an Egyptian patient with infantile Canavan disease.
Zayed et al., Cairo, Egypt. In Metab Brain Dis, Dec 2015
UNASSIGNED: Canavan disease (CD) is a rare fatal childhood neurological autosomal recessive genetic disease caused by mutations in the ASPA gene, which lead to catalytic deficiency of the ASPA enzyme that catalyzes the deacetylation of NAA.
Atypical clinical and radiological course of a patient with Canavan disease.
Rodriguez et al., Clermont-Ferrand, France. In Metab Brain Dis, Dec 2015
UNASSIGNED: Canavan disease (CD) is a rare metabolic disorder caused by aspartoacylase (ASPA) deficiency.
N-Acetylaspartate Synthase Deficiency Corrects the Myelin Phenotype in a Canavan Disease Mouse Model But Does Not Affect Survival Time.
Eckhardt et al., Bonn, Germany. In J Neurosci, Nov 2015
UNLABELLED: Canavan disease (CD) is a severe, lethal leukodystrophy caused by deficiency in aspartoacylase (ASPA), which hydrolyzes N-acetylaspartate (NAA).
Combining rational metabolic engineering and flux optimization strategies for efficient production of fumaric acid.
Lee et al., Taejŏn, South Korea. In Appl Microbiol Biotechnol, Oct 2015
Deletion of the aspA gene encoding aspartase and supplementation of aspartic acid further increased the fumaric acid titer to 35.1 g/L with a yield of 0.490 g/g·glucose.
Structures of archaeal DNA segregation machinery reveal bacterial and eukaryotic linkages.
Barillà et al., Durham, United States. In Science, Oct 2015
This system uses three proteins: ParA; an atypical ParB adaptor; and a centromere-binding component, AspA.
Metabolic engineering of Escherichia coli for the production of 3-aminopropionic acid.
Lee et al., Taejŏn, South Korea. In Metab Eng, Jul 2015
Using a fumaric acid producing Escherichia coli strain as a host, the Corynebacterium glutamicum panD gene (encoding L-aspartate-α-decarboxylase) was overexpressed and the native promoter of the aspA gene was replaced with the strong trc promoter, which allowed aspartic acid production through the aspartase-catalyzed reaction.
cAMP receptor protein (CRP)-mediated resistance/tolerance in bacteria: mechanism and utilization in biotechnology.
Jiang et al., Singapore, Singapore. In Appl Microbiol Biotechnol, Jun 2015
Different CRP mutants would induce different cellular transcription profile in E. coli, but there are common genes differentially expressed in these variants, including upregulated gadAB and downregulated nontransporter genes aspA and tnaA, and transporter/poringenes malE, mglB, cstA, and lamB.
Canavan disease: an Arab scenario.
Zayed, Doha, Qatar. In Gene, May 2015
CD is caused by mutations in the gene encoding the ASPA enzyme.
A Novel Mutation in Aspartoacylase Gene; Canavan Disease.
Vafaee-Shahi et al., Tehrān, Iran. In Iran J Child Neurol, 2014
Aspartoacylase deficiency results in decrease of myelin biosynthesis, dysmyelination and brain edema.
Leukodystrophies with astrocytic dysfunction.
Rodriguez, Paris, France. In Handb Clin Neurol, 2012
An increased concentration of NAA in the urine is sufficient to diagnose Canavan disease, which is due to mutations of the ASPA gene.
Expression of aspartoacylase (ASPA) and Canavan disease.
Sass et al., Freiburg, Germany. In Gene, 2012
Human aspartoacylase gene expression was high not only in brain and kidney, but also in lung and liver.
Aspartoacylase supports oxidative energy metabolism during myelination.
Leone et al., United States. In J Cereb Blood Flow Metab, 2012
aspartoacylase is proposed here to support lipid synthesis and energy metabolism via the provision of substrate for both cellular processes during early postnatal development
A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family.
Ahmad et al., Quetta, Pakistan. In Mol Biol Rep, 2012
Gene ASPA (NM_000049) was undertaken to sequence for mutation analysis.
Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation.
Brunetti-Pierri et al., In Mol Genet Metab, 2011
We report on an Italian female patient with Canavan disease due to a missense mutation of the aspartoacylase gene and a 17p13.3 chromosomal microdeletion
Aspartoacylase-lacZ knockin mice: an engineered model of Canavan disease.
Klugmann et al., Mainz, Germany. In Plos One, 2010
Intracellular vacuolisation in astrocytes coincides with axonal swellings in cerebellum and brain stem of aspa(lacZ/lacZ) mutants indicating that astroglia may act as an osmolyte buffer in the aspa-deficient CNS
Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism.
Okun et al., Heidelberg, Germany. In J Inherit Metab Dis, 2008
This review summarizes recent knowledge on pathomechanisms involved in phenylketonuria, glutaric aciduria type I, succinic semialdehyde dehydrogenase deficiency and aspartoacylase deficiency with examples, highlighting general as well as disease-specific concepts and their putative impact on treatment.
Canavan Disease
Michals-Matalon et al., Seattle, United States. In Unknown Journal, 1999
In mild/juvenile Canavan disease NAA may only be slightly elevated; thus, the diagnosis relies on molecular genetic testing of ASPA, the gene encoding the enzyme aspartoacylase.
Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.
Matalon et al., Miami, United States. In Nat Genet, 1993
We have cloned the human aspartoacylase (ASP) cDNA spanning 1,435 basepairs, and show that the isolated cDNA expresses aspartoacylase activity in bacteria.
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