Results 31 to 40 of about 1,754 (190)
Molecular Therapy: Methods & Clinical Development, 2021 Recent advances in adeno-associated viral (AAV) capsid variants with novel oligotropism require validation in models of disease in order to be viable candidates for white matter disease gene therapy.
Jeremy S. Francis +7 more
doaj +1 more source
NMDA Receptors: Power Switches for Oligodendrocytes [PDF]
, 2016 The role of NMDA receptors in oligodendrocytes has been controversial. A new paper (Saab et al., 2016) suggests they play a key role in regulating glucose uptake in response to axonal glutamate release, thus controlling metabolic cooperation between ...
Attwell, D, Krasnow, AM
core +1 more source
Myelin Lipid Abnormalities in the Aspartoacylase-Deficient Tremor Rat [PDF]
Neurochemical Research, 2008 The high concentration of N-acetylaspartate (NAA) in neurons of the central nervous system and its growing clinical use as an indicator of neuronal viability has intensified interest in the biological function of this amino acid derivative. The biomedical relevance of such inquiries is highlighted by the myelin-associated pathology of Canavan disease ...
Jianfeng, Wang +7 more
openaire +2 more sources
A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment. [PDF]
, 2017 Megalencephaly and macrocephaly present with a head circumference measurement 2 standard deviations above the age-related mean. However, even if pathologic events resulting in both megalencephaly and macrocephaly may coexist, a distinction between these ...
Corsello G +6 more
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Advanced Science, 2023 Demyelinating disorders are among the most common and debilitating diseases in neurology. Canavan disease (CD) is a lethal demyelinating disease caused by mutation of the aspartoacylase (ASPA) gene, which leads to the accumulation of its substrate N ...
Lizhao Feng +13 more
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Adeno-associated virus and lentivirus vectors: a refined toolkit for the central nervous system. [PDF]
, 2016 The last two decades have witnessed the increasing instrumentalization of viruses, which have progressively evolved into highly potent gene transfer vehicles for a wide spectrum of applications.
Blessing, D., Déglon, N.
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Extensive aspartoacylase expression in the rat central nervous system [PDF]
Glia, 2011 Aspartoacylase (ASPA) catalyzes deacetylation of N-acetylaspartate (NAA) to generate acetate and aspartate. Mutations in the gene for ASPA lead to reduced acetate availability in the CNS during development resulting in the fatal leukodystrophy Canavan disease.
John R, Moffett +5 more
openaire +2 more sources
Disease Models & Mechanisms, 2014 Canavan disease is a leukodystrophy caused by mutations in the ASPA gene. This gene encodes the enzyme that converts N-acetylaspartate into acetate and aspartic acid.
Marina R. Carpinelli +6 more
doaj +1 more source
Transcriptomic analysis of Synechocystis sp PCC6803 under low-temperature stress [PDF]
, 2014 In this study, cDNA microarrays were developed from 3569 mRNA reads to analyze the expression profiles of the transcriptomes of Synechocystis sp. PCC6803 under low temperature (LT) stress.
Cui Hongli +8 more
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A Novel Homozygous Variant in the Aspartoacylase Gene Causes Canavan Disease-Case Report
Journal of Pediatric ResearchGlu178 is the active site residue essential for substrate affinity and catalytic activity of the aspartoacylase enzyme. Sanger sequencing in an infant with Canavan disease revealed a homozygous ASPA: c.532G>A: p. (Glu178Lys) variant.
Archana Vaddinahalli Kariyappa +7 more
doaj +1 more source