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Genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) in ethnic populations in Texas; a report of a novel MTHFR polymorphic site, G1793A.
The importance of hyperhomocysteinemia, birth defects, and vascular diseases has been the subject of intense investigations. The polymorphic MTHFR mutations (C677T and A1298C) cause mildExpand
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Defective N-acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan's disease.
Canavan's disease (CD) is a fatal, hereditary disorder of CNS development that has been linked to mutations in the gene for the enzyme aspartoacylase (ASPA) (EC 3.5.1.15). ASPA acts to hydrolyzeExpand
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Knock‐out mouse for Canavan disease: a model for gene transfer to the central nervous system
Canavan disease (CD) is an autosomal recessive leukodystrophy characterized by deficiency of aspartoacylase (ASPA) and increased levels of N‐acetylaspartic acid (NAA) in brain and body fluids, severeExpand
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A single intravenous rAAV injection as late as P20 achieves efficacious and sustained CNS Gene therapy in Canavan mice.
Canavan's disease (CD) is a fatal pediatric leukodystrophy caused by mutations in aspartoacylase (AspA) gene. Currently, there is no effective treatment for CD; however, gene therapy is an attractiveExpand
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Direct prenatal chromosome diagnosis of a malignancy.
A fetal tumor was suspected at 31 weeks of gestation. The occurrence of polyhydramnios led to an ultrasound examination, which revealed deformation of the fetal head, face, eye, and neck. This wasExpand
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Future role of large neutral amino acids in transport of phenylalanine into the brain.
OBJECTIVE The treatment of phenylketonuria (PKU) in children and adults has been difficult because of erosion of dietary adherence, leading to poor school performance, impairment of executiveExpand
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Neuronal localization of the mitochondrial protein NIPSNAP1 in rat nervous system
The NIPSNAP (4‐nitrophenylphosphatase domain and non‐neuronal SNAP25‐like protein homolog 1) proteins belong to a highly conserved family of proteins of unknown function. We found that NIPSNAP1 bindsExpand
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High level of orexin A observed in the phenylketonuria mouse brain is due to the abnormal expression of prepro-orexin.
Orexins/hypocretins are recently discovered neuropeptides, synthesized mainly in the lateral hypothalamus of the brain. Orexins regulate various functions including sleep and apetite. We recentlyExpand
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Aspartoacylase gene knockout in the mouse: impact on reproduction.
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 similarExpand
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Metabolic Changes in the Knockout Mouse for Canavan's Disease
Canavan's disease is an autosomal recessive disorder caused by aspartoacylase deficiency, which leads to accumulation of N-acetylaspartic acid in the brain and blood and an elevated level ofExpand
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