Results 151 to 160 of about 1,111 (177)

A radiometric assay for aspartoacylase activity in cultured oligodendrocytes

Analytical Biochemistry, 2002
Recent studies have shown that aspartoacylase (ASPA), the defective enzyme in Canavan disease, is detectable in the brain only in the oligodendrocytes. Studying the regulation of ASPA is central to the understanding the pathogenesis of Canavan disease and to the development of therapeutic strategies.
C N, Madhavarao, J A, Hammer, R H, Quarles, M A A, Namboodiri   +3 more
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Canavan disease/aspartoacylase deficiency

, 2005
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Canavan disease: Molecular basis of aspartoacylase deficiency

Journal of Inherited Metabolic Disease, 1994
The biochemical deficiency of aspartoacylase (ASPA; EC 3.5.1.15) was established as the basic defect in Canavan disease (CD; McKusick 271900) by Matalon et al (1988). Deficiency of ASPA and accumulation of N-acetylaspartic acid (NAA) in the leukodystrophic brain of CD is unique, and has not been observed in any other nonCanavan leukodystrophies such as
R, Kaul, G P, Gao, K, Balamurugan, R, Matalon   +3 more
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Cranial ultrasound findings in aspartoacylase deficiency (Canavan disease)

Pediatric Radiology, 1993
Canavan disease (CD) is a rare leukodystrophy which is lethal in infancy or early childhood. The underlying biochemical abnormality in CD is a hereditary deficiency of N-aspartoacylase transmitted in an autosomal recessive fashion. We report on the ultrasound (US), CT, and MRI findings of three unrelated boys with biochemically confirmed CD. At 6 and 9
C, Bührer, C, Bassir, A, von Moers, J, Sperner, T, Michael, D, Scheffner, H J, Kaufmann   +6 more
openaire   +2 more sources

Purification, Characterization, and Localization of Aspartoacylase from Bovine Brain

Journal of Neurochemistry, 1991
Abstract: Canavan disease, an autosomal recessive disorder, is characterized biochemically by N‐acetylaspartic aciduria and aspartoacylase (N‐acyl‐L‐aspartate amidohydrolase; EC 3.5.1.15) deficiency. However, the role of aspartoacylase and N‐acetylaspartic acid in brain metabolism is unknown.
R, Kaul, J, Casanova, A B, Johnson, P, Tang, R, Matalon   +4 more
openaire   +2 more sources

Developmental increase of aspartoacylase in oligodendrocytes parallels CNS myelination

Developmental Brain Research, 2003
Canavan disease, an autosomal-recessive neurogenetic disorder, is caused by mutations in aspartoacylase, an enzyme that deacetylates N-acetylaspartate to generate free acetate in the brain. Earlier studies have shown that aspartoacylase is primarily restricted to myelin synthesizing cells (oligodendroglia) in the CNS.
Batool F, Kirmani, David M, Jacobowitz, M A A, Namboodiri   +2 more
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Murine aspartoacylase: cloning, expression and comparison with the human enzyme

Molecular Brain Research, 2000
Canavan disease is caused by mutations in aspartoacylase, the enzyme that degrades N-acetylaspartate (NAA) into acetate and aspartate. Murine aspartoacylase (mASPA) was cloned using sequence information from mouse expressed sequence tags homologous to the human cDNA.
M A, Namboodiri, A, Corigliano-Murphy, G, Jiang, M, Rollag, I, Provencio   +4 more
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Abstract 3663: Characterization of aspartoacylase in oligodendroglioma

Cancer Research, 2011
Abstract Aspartoacylase (ASPA, ACY2) is an oligodendrocyte-derived amino acid deacetylase (aminoacylase) responsible for supplying acetate for myelin lipid synthesis via the cleavage of N-acetyl-L-aspartate (NAA) into free acetate and aspartate.
openaire   +1 more source

Aspartoacylase Deficiency: The Enzyme Defect in Canavan Disease

Journal of Inherited Metabolic Disease, 1989
Spongy degeneration of the brain, Canavan disease (CD; McKusick 27190) is an autosomal recessive leukodystrophy (van Bogaert and Bertrand, 1967). Recently, Matalon et al. (1988) have reported three children with CD who had excessive amounts of N-acetylaspartic acid (NAA) in urine, blood and brain, and deficiency of aspartoacylase (EC 3.5.1.15) in ...
R. Matalon, R. Kaul, J. Casanova, K. Michals, A. Johnson, I. Rapin, P. Gashkoff, M. Deanching   +7 more
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Novel role for aspartoacylase in regulation of BDNF and timing of postnatal oligodendrogenesis

Journal of Neuroscience Research, 2006
AbstractNeuronal growth factors are thought to exert a significant degree of control over postnatal oligodendrogenesis, but mechanisms by which these factors coordinateoligodendrocyte development with the maturation of neural networks are poorly characterized. We present here a developmental analysis of aspartoacylase (Aspa)‐null tremor rats and show a
Jeremy S, Francis, Ana, Olariu, Scott W, McPhee, Paola, Leone   +3 more
openaire   +2 more sources