Results 111 to 120 of about 888 (137)

Aspartoacylase is a regulated nuclear‐cytoplasmic enzyme

The FASEB Journal, 2006
Mutations in the gene for aspartoacylase (ASPA), which catalyzes deacetylation of N ‐acetyl‐L‐aspartate in the central nervous system (CNS), result in Canavan Disease, a fatal dysmyelinating disease.
Jeremy R. Hershfield, Chikkathur N. Madhavarao, John R. Moffett, Joyce A. Benjamins, James Y. Garbern, Aryan Namboodiri, Jeremy R. Hershfield, Chikkathur N. Madhavarao, John R. Moffett, Joyce A. Benjamins, James Y. Garbern, Aryan Namboodiri   +11 more
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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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Aspartoacylase deficiency and Canavan disease in Saudi Arabia

American Journal of Medical Genetics, 1990
AbstractWe found defective aspartoacylase activity in fibroblasts cultured from 12 patients with leukodystrophy clinically diagnosed as spongy degeneration of the brain (Canavan disease), three confirmed by brain biopsy. The activity of aspartoacylase ranged between 1 and 13% of two groups of control individuals, normals, and those with other ...
P T, Ozand, G G, Gascon, M, Dhalla
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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
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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
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A novel Aspartoacylase (ASPA) Gene Mutation in Canavan Disease

Fetal and Pediatric Pathology, 2012
Canavan disease is a severe autosomal recessive leukodystrophy characterized by macrocephaly, ataxia, severe motor and mental retardation, dysmyelination, and progressive spongial atrophy of the brain. The human aspartoacylase (ASPA) gene, which catalyzes the deacetylation of N-acetyl-L-aspartate, is mutated in Canavan disease.
Durmaz, Asude Alpman, Akin, Haluk, Onay, Huseyin, Vahabi, Ali, Özkınay, Ferda   +4 more
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Aspartoacylase gene knockout in the mouse: Impact on reproduction

Reproductive Toxicology, 2005
Canavan disease (CD) is an autosomal recessive disorder caused by aspartoacylase (ASPA) gene mutations resulting enzyme deficiency. The homozygous knockout mouse for CD showed symptoms similar observed in patients with CD. Canavan disease leads to early death.
Sankar, Surendran, Sylvia, Szucs, Stephen K, Tyring, Reuben, Matalon   +3 more
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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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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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Aspartoacylase Deficiency (Canavan Disease, N-Acetylaspartic Aciduria)

2019
CD is a rare, autosomal recessive neurometabolic disorder with often devastating clinical consequences. It typically presents in early infancy. Clinical symptoms and MRI-based findings are chronic neurological deterioration with irritability and severe global developmental delay, loss of early milestones, macrocephaly, and seizures together with white ...
Jörn Oliver Sass, Ina Knerr
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