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Amyloidosis
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Anemia
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
aspartoacylase deficiency
A Novel Mutation in Aspartoacylase Gene; Canavan Disease.
aspartoacylase deficiency
A review of phylogenetic and metabolic relationships between the acylamino acids, N-acetyl-L-aspartic acid and N-acetyl-L-histidine, in the vertebrate nervous system.
aspartoacylase deficiency
Accumulation of N-acetyl-L-aspartate in the brain of the tremor rat, a mutant exhibiting absence-like seizure and spongiform degeneration in the central nervous system.
aspartoacylase deficiency
Aspartoacylase deficiency affects early postnatal development of oligodendrocytes and myelination.
aspartoacylase deficiency
Aspartoacylase deficiency and Canavan disease in Saudi Arabia.
aspartoacylase deficiency
Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease.
aspartoacylase deficiency
Aspartoacylase deficiency does not affect N-acetylaspartylglutamate level or glutamate carboxypeptidase II activity in the knockout mouse brain.
aspartoacylase deficiency
Aspartoacylase deficiency in the white matter of human immunodeficiency virus encephalitis: novel mechanism in axonal damage.
aspartoacylase deficiency
Brain Nat8l Knockdown Suppresses Spongiform Leukodystrophy in an Aspartoacylase-Deficient Canavan Disease Mouse Model.
aspartoacylase deficiency
Canavan disease. Analysis of the nature of the metabolic lesions responsible for development of the observed clinical symptoms.
aspartoacylase deficiency
Canavan disease: a novel mutation.
aspartoacylase deficiency
Canavan disease: molecular basis of aspartoacylase deficiency.
aspartoacylase deficiency
Coincident neuraminidase and aspartoacylase deficiency associated with chromosome 9Q paracentric inversion in a Saudi family.
aspartoacylase deficiency
Cranial ultrasound findings in aspartoacylase deficiency (Canavan disease).
aspartoacylase deficiency
Effects of ethanol and of alcohol dehydrogenase inhibitors on the reduction of N-acetylaspartate levels of brain in mice in vivo: a search for substances that may have therapeutic value in the treatment of Canavan disease.
aspartoacylase deficiency
Glyceryl triacetate for Canavan disease: A low-dose trial in infants and evaluation of a higher dose for toxicity in the tremor rat model.
aspartoacylase deficiency
Identification and distribution of aspartoacylase in the postnatal rat brain.
aspartoacylase deficiency
Mental retardation and hypotonia seen in the knock out mouse for Canavan disease is not due to succinate semialdehyde dehydrogenase deficiency.
aspartoacylase deficiency
Metabolic changes in the knockout mouse for Canavan's disease: implications for patients with Canavan's disease.
aspartoacylase deficiency
Molecular basis of Canavan's disease: from human to mouse.
aspartoacylase deficiency
Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism.
aspartoacylase deficiency
Protracted clinical course for patients with Canavan disease.
aspartoacylase deficiency
Purification and preliminary characterization of brain aspartoacylase.
aspartoacylase deficiency
Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): comparison of enzymatic and metabolite analysis.
aspartoacylase deficiency
SSIEM Award. Aspartoacylase deficiency: the enzyme defect in Canavan disease.
aspartoacylase deficiency
The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel.
aspartoacylase deficiency
The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients.
aspartoacylase deficiency
Ultrasound findings in follow-up investigations in a case of aspartoacylase deficiency (canavan disease).
aspartoacylase deficiency
Variable course of Canavan disease in two boys with early infantile aspartoacylase deficiency.
aspartoacylase deficiency
[Canavan disease or N-acetyl aspartic aciduria: a case report]
aspartoacylase deficiency
[Megalencephaly with dystonia revealing Canavan disease].
aspartoacylase deficiency
[Neurologic diseases and chromosome 17]
Bardet-Biedl Syndrome
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Brain Diseases
Are Astrocytes the Missing Link Between Lack of Brain Aspartoacylase Activity and the Spongiform Leukodystrophy in Canavan Disease?
Brain Diseases
Protracted clinical course for patients with Canavan disease.
Brain Edema
A Novel Mutation in Aspartoacylase Gene; Canavan Disease.
Brain Injuries, Traumatic
THE MOLECULAR MECHANISMS AFFECTING N-ACETYLASPARTATE HOMEOSTASIS FOLLOWING EXPERIMENTAL GRADED TRAUMATIC BRAIN INJURY.
Breast Neoplasms
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Canavan Disease
A case of Canavan disease: the first biochemically proven case in a Japanese girl.
Canavan Disease
A mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
Canavan Disease
A novel aspartoacylase (ASPA) gene mutation in Canavan disease.
Canavan Disease
A Novel Mutation in Aspartoacylase Gene; Canavan Disease.
Canavan Disease
A partial deletion of the aspartoacylase gene is the cause of Canavan disease in a family from Mexico.
Canavan Disease
A radiometric assay for aspartoacylase activity in cultured oligodendrocytes.
Canavan Disease
A review of phylogenetic and metabolic relationships between the acylamino acids, N-acetyl-L-aspartic acid and N-acetyl-L-histidine, in the vertebrate nervous system.
Canavan Disease
A structural and functional analysis of Nna1 in Purkinje cell degeneration (pcd) mice.
Canavan Disease
Ablating N-acetylaspartate prevents leukodystrophy in a Canavan disease model.
Canavan Disease
Ablating the transporter NaDC3 prevents leukodystrophy in Canavan disease mice.
Canavan Disease
Accumulation of N-acetyl-L-aspartate in the brain of the tremor rat, a mutant exhibiting absence-like seizure and spongiform degeneration in the central nervous system.
Canavan Disease
Adeno-associated virus-mediated aspartoacylase gene transfer to the brain of knockout mouse for canavan disease.
Canavan Disease
An atypical case of canavan disease with stroke-like presentation.
Canavan Disease
Antisense Oligonucleotide Reverses Leukodystrophy in Canavan Disease Mice.
Canavan Disease
Are Astrocytes the Missing Link Between Lack of Brain Aspartoacylase Activity and the Spongiform Leukodystrophy in Canavan Disease?
Canavan Disease
Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective.
Canavan Disease
Aspartoacylase deficiency affects early postnatal development of oligodendrocytes and myelination.
Canavan Disease
Aspartoacylase deficiency and Canavan disease in Saudi Arabia.
Canavan Disease
Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease.
Canavan Disease
Aspartoacylase deficiency does not affect N-acetylaspartylglutamate level or glutamate carboxypeptidase II activity in the knockout mouse brain.
Canavan Disease
Aspartoacylase deficiency in the white matter of human immunodeficiency virus encephalitis: novel mechanism in axonal damage.
Canavan Disease
Aspartoacylase gene knockout in the mouse: impact on reproduction.
Canavan Disease
Aspartoacylase gene transfer to the mammalian central nervous system with therapeutic implications for Canavan disease.
Canavan Disease
Aspartoacylase is a regulated nuclear-cytoplasmic enzyme.
Canavan Disease
Aspartoacylase is restricted primarily to myelin synthesizing cells in the CNS: therapeutic implications for Canavan disease.
Canavan Disease
Aspartoacylase-lacZ knockin mice: an engineered model of Canavan disease.
Canavan Disease
Astroglial Redistribution of Aquaporin 4 During Spongy Degeneration in a Canavan Disease Mouse Model.
Canavan Disease
Atypical clinical and radiological course of a patient with Canavan disease.
Canavan Disease
Atypical MRI findings in Canavan disease: a patient with a mild course.
Canavan Disease
Brain Nat8l Knockdown Suppresses Spongiform Leukodystrophy in an Aspartoacylase-Deficient Canavan Disease Mouse Model.
Canavan Disease
Canavan disease and the role of N-acetylaspartate in myelin synthesis.
Canavan Disease
Canavan disease, a rare early-onset human spongiform leukodystrophy: Insights into its genesis and possible clinical interventions.
Canavan Disease
Canavan disease. Analysis of the nature of the metabolic lesions responsible for development of the observed clinical symptoms.
Canavan Disease
Canavan disease: a monogenic trait with complex genomic interaction.
Canavan Disease
Canavan disease: a novel mutation.
Canavan Disease
Canavan disease: a white matter disorder.
Canavan Disease
Canavan disease: biochemical and molecular studies.
Canavan Disease
Canavan disease: diagnosis and molecular analysis.
Canavan Disease
Canavan disease: genomic organization and localization of human ASPA to 17p13-ter and conservation of the ASPA gene during evolution.
Canavan Disease
Canavan disease: molecular basis of aspartoacylase deficiency.
Canavan Disease
Canavan disease: mutations among Jewish and non-jewish patients.
Canavan Disease
Cell-Based Therapy for Canavan Disease Using Human iPSC-Derived NPCs and OPCs.
Canavan Disease
Characterization of human aspartoacylase: the brain enzyme responsible for Canavan disease.
Canavan Disease
Clinical protocol. Gene therapy of Canavan disease: AAV-2 vector for neurosurgical delivery of aspartoacylase gene (ASPA) to the human brain.
Canavan Disease
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
Canavan Disease
Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.
Canavan Disease
Coincident neuraminidase and aspartoacylase deficiency associated with chromosome 9Q paracentric inversion in a Saudi family.
Canavan Disease
Cranial ultrasound findings in aspartoacylase deficiency (Canavan disease).
Canavan Disease
Development of bisubstrate analog inhibitors of aspartate N-acetyltransferase, a critical brain enzyme.
Canavan Disease
Developmental increase of aspartoacylase in oligodendrocytes parallels CNS myelination.
Canavan Disease
Docking, molecular dynamics and free energy studies on aspartoacylase mutations involved in Canavan disease.
Canavan Disease
Effects of AAV-2-mediated aspartoacylase gene transfer in the tremor rat model of Canavan disease.
Canavan Disease
Effects of ethanol and of alcohol dehydrogenase inhibitors on the reduction of N-acetylaspartate levels of brain in mice in vivo: a search for substances that may have therapeutic value in the treatment of Canavan disease.
Canavan Disease
Enhanced brain distribution of modified aspartoacylase.
Canavan Disease
Examination of the Mechanism of Human Brain Aspartoacylase through the Binding of an Intermediate Analogue(,).
Canavan Disease
Expression of aspartoacylase (ASPA) and Canavan disease.
Canavan Disease
Expression of aspartoacylase activity in cultured rat macroglial cells is limited to oligodendrocytes.
Canavan Disease
Feline Spongy Encephalopathy With a Mutation in the ASPA Gene.
Canavan Disease
Frequency of a DNA polymorphism at position Y231 in the aspartoacylase gene and its impact on DNA-based carrier testing for Canavan disease in the Ashkenazi Jewish Population.
Canavan Disease
Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease.
Canavan Disease
Glyceryl triacetate for Canavan disease: A low-dose trial in infants and evaluation of a higher dose for toxicity in the tremor rat model.
Canavan Disease
Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.
Canavan Disease
Identification and distribution of aspartoacylase in the postnatal rat brain.
Canavan Disease
Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.
Canavan Disease
Identification of the zinc binding ligands and the catalytic residue in human aspartoacylase, an enzyme involved in Canavan disease.
Canavan Disease
Increasing N-acetylaspartate in the Brain during Postnatal Myelination Does Not Cause the CNS Pathologies of Canavan Disease.
Canavan Disease
Intracerebroventricular administration of N-acetylaspartic acid impairs antioxidant defenses and promotes protein oxidation in cerebral cortex of rats.
Canavan Disease
Knock-out mouse for Canavan disease: a model for gene transfer to the central nervous system.
Canavan Disease
Lack of aspartoacylase activity disrupts survival and differentiation of neural progenitors and oligodendrocytes in a mouse model of Canavan disease.
Canavan Disease
Long-term follow-up after gene therapy for canavan disease.
Canavan Disease
Loss of central auditory processing in a mouse model of Canavan disease.
Canavan Disease
Mental retardation and hypotonia seen in the knock out mouse for Canavan disease is not due to succinate semialdehyde dehydrogenase deficiency.
Canavan Disease
Metabolic acetate therapy improves phenotype in the tremor rat model of Canavan disease.
Canavan Disease
Metabolic changes in the knockout mouse for Canavan's disease: implications for patients with Canavan's disease.
Canavan Disease
Modification of aspartoacylase for potential use in enzyme replacement therapy for the treatment of Canavan disease.
Canavan Disease
Molecular basis of Canavan's disease: from human to mouse.
Canavan Disease
Murine aspartoacylase: cloning, expression and comparison with the human enzyme.
Canavan Disease
Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease.
Canavan Disease
Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.
Canavan Disease
Mutational analysis of aspartoacylase: implications for Canavan disease.
Canavan Disease
Myelin lipid abnormalities in the aspartoacylase-deficient tremor rat.
Canavan Disease
N-acetylaspartate in the vertebrate brain: metabolism and function.
Canavan Disease
N-acetylaspartate supports the energetic demands of developmental myelination via oligodendroglial aspartoacylase.
Canavan Disease
N-Acetylaspartate Synthase Deficiency Corrects the Myelin Phenotype in a Canavan Disease Mouse Model But Does Not Affect Survival Time.
Canavan Disease
N-acetylaspartic aciduria in Canavan disease: another proof in two infants.
Canavan Disease
N-acetylaspartylglutamate selectively inhibits neuronal responses to N-methyl-D-aspartic acid in vitro.
Canavan Disease
Natural history of Canavan disease revealed by proton magnetic resonance spectroscopy (1H-MRS) and diffusion-weighted MRI.
Canavan Disease
New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion.
Canavan Disease
Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease.
Canavan Disease
Novel mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
Canavan Disease
Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
Canavan Disease
Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism.
Canavan Disease
Progress toward acetate supplementation therapy for Canavan disease: glyceryl triacetate administration increases acetate, but not N-acetylaspartate, levels in brain.
Canavan Disease
Protracted clinical course for patients with Canavan disease.
Canavan Disease
Purification and preliminary characterization of brain aspartoacylase.
Canavan Disease
Purification, characterization, and localization of aspartoacylase from bovine brain.
Canavan Disease
rAAV gene therapy in a Canavan's disease mouse model reveals immune impairments and an extended pathology beyond the central nervous system.
Canavan Disease
Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease.
Canavan Disease
Redirecting
Canavan Disease
Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): comparison of enzymatic and metabolite analysis.
Canavan Disease
Reliable prenatal diagnosis of Canavan disease by measuring N-acetylaspartate in amniotic fluid using liquid chromatography tandem mass spectrometry.
Canavan Disease
Restoration of aspartoacylase activity in CNS neurons does not ameliorate motor deficits and demyelination in a model of Canavan disease.
Canavan Disease
Restricted diffusion in Canavan disease.
Canavan Disease
Severe retinal degeneration in a patient with Canavan disease.
Canavan Disease
Spongy degeneration of the brain, Canavan disease: biochemical and molecular findings.
Canavan Disease
SSIEM Award. Aspartoacylase deficiency: the enzyme defect in Canavan disease.
Canavan Disease
Structural modeling of p.V31F variant in the aspartoacylase gene.
Canavan Disease
Structure of aspartoacylase, the brain enzyme impaired in Canavan disease.
Canavan Disease
Suppressing N-Acetyl-l-Aspartate Synthesis Prevents Loss of Neurons in a Murine Model of Canavan Leukodystrophy.
Canavan Disease
The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel.
Canavan Disease
The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients.
Canavan Disease
The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.
Canavan Disease
Transport of N-acetylaspartate via murine sodium/dicarboxylate cotransporter NaDC3 and expression of this transporter and aspartoacylase II in ocular tissues in mouse.
Canavan Disease
Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease.
Canavan Disease
Two novel missense mutations in the aspartoacylase gene in a Chinese patient with congenital Canavan disease.
Canavan Disease
Ultrasound findings in follow-up investigations in a case of aspartoacylase deficiency (canavan disease).
Canavan Disease
Uncoupling N-acetylaspartate from brain pathology: implications for Canavan disease gene therapy.
Canavan Disease
Unreliable verification of prenatal diagnosis of Canavan disease: aspartoacylase activity in deficient and normal fetal skin fibroblasts.
Canavan Disease
Upregulation of N-acetylaspartic acid resulting nitric oxide toxicity induces aspartoacylase mutations and protein interaction to cause pathophysiology seen in Canavan disease.
Canavan Disease
Variable course of Canavan disease in two boys with early infantile aspartoacylase deficiency.
Canavan Disease
White matter disease: Targeted aspartoacylase gene therapy reverts Canavan disease.
Canavan Disease
[Canavan disease or N-acetyl aspartic aciduria: a case report]
Canavan Disease
[Long term clinical course of Canavan disease--a rare Japanese case]
Canavan Disease
[Megalencephaly with dystonia revealing Canavan disease].
Canavan Disease
[Neurologic diseases and chromosome 17]
Carcinogenesis
N-Acetylaspartate (NAA) and N-Acetylaspartylglutamate (NAAG) Promote Growth and Inhibit Differentiation of Glioma Stem-like Cells.
Carcinoma
Differential aminoacylase expression in neuroblastoma.
Carcinoma
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Carcinoma, Renal Cell
Differential aminoacylase expression in neuroblastoma.
Deficiency Diseases
Effects of ethanol and of alcohol dehydrogenase inhibitors on the reduction of N-acetylaspartate levels of brain in mice in vivo: a search for substances that may have therapeutic value in the treatment of Canavan disease.
Demyelinating Diseases
Cell-Based Therapy for Canavan Disease Using Human iPSC-Derived NPCs and OPCs.
Demyelinating Diseases
Relationship between enzyme properties and disease progression in Canavan disease.
Demyelinating Diseases
Restoration of aspartoacylase activity in CNS neurons does not ameliorate motor deficits and demyelination in a model of Canavan disease.
Diabetic Neuropathies
Upregulation of aspartoacylase activity in the duodenum of obesity induced diabetes mouse: implications on diabetic neuropathy.
Dwarfism
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Encephalitis
Aspartoacylase deficiency in the white matter of human immunodeficiency virus encephalitis: novel mechanism in axonal damage.
Epilepsy
Adenoviral gene transfer of aspartoacylase into the tremor rat, a genetic model of epilepsy, as a trial of gene therapy for inherited epileptic disorder.
Epilepsy
Effects of AAV-2-mediated aspartoacylase gene transfer in the tremor rat model of Canavan disease.
Essential Tremor
Involvement of NMDA receptors in tremor expression in Aspa/Hcn1 double-knockout rats.
Genetic Diseases, Inborn
A review of phylogenetic and metabolic relationships between the acylamino acids, N-acetyl-L-aspartic acid and N-acetyl-L-histidine, in the vertebrate nervous system.
Genetic Diseases, Inborn
Glyceryl triacetate for Canavan disease: A low-dose trial in infants and evaluation of a higher dose for toxicity in the tremor rat model.
Genetic Diseases, Inborn
Transport of N-acetylaspartate via murine sodium/dicarboxylate cotransporter NaDC3 and expression of this transporter and aspartoacylase II in ocular tissues in mouse.
Glioma
N-Acetylaspartate (NAA) and N-Acetylaspartylglutamate (NAAG) Promote Growth and Inhibit Differentiation of Glioma Stem-like Cells.
Glioma
Triacetin-based acetate supplementation as a chemotherapeutic adjuvant therapy in glioma.
Hyperlipoproteinemia Type I
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Hypoalphalipoproteinemias
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Intellectual Disability
Knock-out mouse for Canavan disease: a model for gene transfer to the central nervous system.
Intellectual Disability
N-acetylaspartic acid promotes oxidative stress in cerebral cortex of rats.
Intellectual Disability
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Leukoencephalopathies
White matter disease: Targeted aspartoacylase gene therapy reverts Canavan disease.
lipoprotein lipase deficiency
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Malaria
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Megalencephaly
N-acetylaspartic acid promotes oxidative stress in cerebral cortex of rats.
Metabolic Diseases
Intracerebroventricular administration of N-acetylaspartic acid impairs antioxidant defenses and promotes protein oxidation in cerebral cortex of rats.
Metabolic Diseases
N-acetylaspartic acid promotes oxidative stress in cerebral cortex of rats.
Migraine Disorders
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Mucolipidoses
Coincident neuraminidase and aspartoacylase deficiency associated with chromosome 9Q paracentric inversion in a Saudi family.
Muscle Hypotonia
N-acetylaspartic acid promotes oxidative stress in cerebral cortex of rats.
Muscle Hypotonia
Preimplantation genetic diagnosis of Canavan disease.
Muscle Hypotonia
Ultrasound findings in follow-up investigations in a case of aspartoacylase deficiency (canavan disease).
Muscular Diseases
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Neoplasms
Acetate supplementation as a means of inducing glioblastoma stem-like cell growth arrest.
Neoplasms
Bioinformatics Analysis of Stromal Molecular Signatures Associated with Breast and Prostate Cancer.
Neoplasms
Differential aminoacylase expression in neuroblastoma.
Neoplasms
N-Acetylaspartate (NAA) and N-Acetylaspartylglutamate (NAAG) Promote Growth and Inhibit Differentiation of Glioma Stem-like Cells.
Nervous System Diseases
Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective.
Nervous System Diseases
Aspartoacylase gene transfer to the mammalian central nervous system with therapeutic implications for Canavan disease.
Nervous System Diseases
Enhanced brain distribution of modified aspartoacylase.
Nervous System Diseases
Examination of the Mechanism of Human Brain Aspartoacylase through the Binding of an Intermediate Analogue(,).
Neuroblastoma
Differential aminoacylase expression in neuroblastoma.
Neurodegenerative Diseases
Aspartoacylase deficiency affects early postnatal development of oligodendrocytes and myelination.
Neurodegenerative Diseases
Canavan disease and the role of N-acetylaspartate in myelin synthesis.
Neurodegenerative Diseases
Identification of the zinc binding ligands and the catalytic residue in human aspartoacylase, an enzyme involved in Canavan disease.
Neurodegenerative Diseases
Mutational analysis of aspartoacylase: implications for Canavan disease.
Neurodegenerative Diseases
New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion.
Neurodegenerative Diseases
Progress toward acetate supplementation therapy for Canavan disease: glyceryl triacetate administration increases acetate, but not N-acetylaspartate, levels in brain.
Neurodegenerative Diseases
Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease.
Neurodegenerative Diseases
Severe retinal degeneration in a patient with Canavan disease.
Neurodegenerative Diseases
The clinical course of Canavan disease.
Neurodegenerative Diseases
The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients.
Neurodegenerative Diseases
The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.
Neurodegenerative Diseases
Ultrasound findings in follow-up investigations in a case of aspartoacylase deficiency (canavan disease).
Neurodegenerative Diseases
[Long term clinical course of Canavan disease--a rare Japanese case]
Obesity
Upregulation of aspartoacylase activity in the duodenum of obesity induced diabetes mouse: implications on diabetic neuropathy.
Oligodendroglioma
Acetate supplementation induces growth arrest of NG2/PDGFR?-positive oligodendroglioma-derived tumor-initiating cells.
Optic Nerve Diseases
Transport of N-acetylaspartate via murine sodium/dicarboxylate cotransporter NaDC3 and expression of this transporter and aspartoacylase II in ocular tissues in mouse.
Osteoporosis
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Phenylketonurias
Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism.
Rickets
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Seizures
Activation by N-acetyl-L-aspartate of acutely dissociated hippocampal neurons in rats via metabotropic glutamate receptors.
Seizures
Adenoviral gene transfer of aspartoacylase ameliorates tonic convulsions of spontaneously epileptic rats.
Seizures
Effects of AAV-2-mediated aspartoacylase gene transfer in the tremor rat model of Canavan disease.
Seizures
N-acetylaspartic acid promotes oxidative stress in cerebral cortex of rats.
Sialic Acid Storage Disease
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism.
Tremor
Accumulation of N-acetyl-L-aspartate in the brain of the tremor rat, a mutant exhibiting absence-like seizure and spongiform degeneration in the central nervous system.
Tremor
Activation by N-acetyl-L-aspartate of acutely dissociated hippocampal neurons in rats via metabotropic glutamate receptors.
Tremor
Adenoviral gene transfer of aspartoacylase ameliorates tonic convulsions of spontaneously epileptic rats.
Tremor
Adenoviral gene transfer of aspartoacylase into the tremor rat, a genetic model of epilepsy, as a trial of gene therapy for inherited epileptic disorder.
Tremor
Effects of AAV-2-mediated aspartoacylase gene transfer in the tremor rat model of Canavan disease.
Tremor
Involvement of aspartoacylase in tremor expression in rats.
Tremor
Novel role for aspartoacylase in regulation of BDNF and timing of postnatal oligodendrogenesis.
von Hippel-Lindau Disease
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
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A57T
Canavan disease mutation, undetectable enzyme activity
C152R
0.5% activity compared to native enzyme form, the stabilities against denaturation induced by heating and by a 1 M urea solution (conformational stability) are considerably lower for the mutant than for native form of the enzyme, mutation responsible for the Canavan disease
D249V
Canavan disease mutation, undetectable enzyme activity
D68A
Canavan disease mutation, undetectable enzyme activity
E178A
undetectable ASPA activity
E178D
10% activity of native enzyme
E214X
Canavan disease mutation, undetectable enzyme activity
E24A
no detectable activity
E285A/P181T
32% activity compared to native enzyme form, the stabilities against denaturation induced by heating and by a 1 M urea solution (conformational stability) are considerably lower for the mutant than for native form of the enzyme, mutation responsible for the Canavan disease
G274R
Canavan disease mutation, undetectable enzyme activity
H116A
no detectable activity
H116G
putative zinc ion binding sites, undetectable ASPA activity
H21A
no detectable activity
H21G
putative zinc ion binding sites, undetectable ASPA activity
H21P
Canavan disease mutation, undetectable enzyme activity
I143T
Canavan disease mutation, undetectable enzyme activity
I143V
the pathogenicity, stability, conservation, change in structural pattern, influence of the mutations on substrate binding of the crystallized mutations (K213E, Y231C, E285A, F295S, I143V and V186D) is compared. The binding affinity to the substrate, hydrogen bond interactions and metal interactions are found to be highly disturbed due to the mutant V186D than the mutant I143V
I143V/V186D
patients with severe form of Canavan disease (CD) have both missense mutations in the ASPA: c.427 A > G; p. I143V and c.557 T > A; p. V186D. Patient 1 harbors both mutations (p.I143V and p.V186D) in a heterozygous form together with four other mutations, and patient 2 has both mutations in homozygous form
M195R
Canavan disease mutation, undetectable enzyme activity
N117Q
homology modeling of the N117Q human aspartoacylase mutant using the native structure, PDB ID 2O53, as the template
P183H
Canavan disease mutation, undetectable enzyme activity
R71H
11% activity compared to native enzyme form, the stabilities against denaturation induced by heating and by a 1 M urea solution (conformational stability) are considerably lower for the mutant than for native form of the enzyme, mutation responsible for the Canavan disease
R71N
undetectable ASPA activity
V186D
the pathogenicity, stability, conservation, change in structural pattern, influence of the mutations on substrate binding of the crystallized mutations (K213E, Y231C, E285A, F295S, I143V and V186D) is compared. The binding affinity to the substrate, hydrogen bond interactions and metal interactions are found to be highly disturbed due to the mutant V186D than the mutant I143V. The mutant V186D can be more pathogenic than the mutant I143V
E178D
-
site-directed mutagenesis, the mutant shows reduced catalytic activity compared to the wild-type enzyme
E178Q
-
site-directed mutagenesis, inactive mutant
E24A
-
site-directed mutagenesis, inactive mutant
H116A
-
site-directed mutagenesis, inactive mutant
H21A
-
site-directed mutagenesis, inactive mutant
I226T
-
mutant shows no catalytic activity, mutation may be responsible in homozygosis for the phenotype corresponding to Canavan disease.
N117Q
-
site-directed mutagenesis, the mutant enzyme is less stable than the wild-type enzyme, while it shows similar catalytic properties and substrate specificity
Y88X
-
the mutation is associated with Canavan disease
A305E
Canavan disease mutation, undetectable enzyme activity
A305E
10% activity compared to native enzyme form, mutation responsible for the Canavan disease
C152W
Canavan disease mutation, undetectable enzyme activity
C152W
1% activity compared to native enzyme form, the stabilities against denaturation induced by heating and by a 1 M urea solution (conformational stability) are considerably lower for the mutant than for native form of the enzyme, mutation responsible for the Canavan disease
E24D
no detectable activity
E24D
putative zinc ion binding sites, undetectable ASPA activity
E24G
Canavan disease mutation, undetectable enzyme activity
E24G
no protein expression
E24G
putative zinc ion binding sites, undetectable ASPA activity
E285A
Canavan disease mutation, undetectable enzyme activity
E285A
a naturally occuring missense mutation associated with the Canavan disease, the mutant shows loss of hydrogen bonding interactions with the carboxylate side chain of Glu285, which disturbs the active site architecture leading to altered substrate binding and lower catalytic activity
E285A
0.3% activity compared to native enzyme form, the stabilities against denaturation induced by heating and by a 1 M urea solution (conformational stability) are considerably lower for the mutant than for native form of the enzyme, mutation responsible for the Canavan disease
E285A
the pathogenicity, stability, conservation, change in structural pattern, influence of the mutations on substrate binding of the crystallized mutations (K213E, Y231C, E285A, F295S, I143V and V186D) is compared. Of the crystallized mutations, the mutant E285A is found to be highly conserved as well as affecting the substrate binding with lesser number of overall hydrogen bonds
F295S
Canavan disease mutation, undetectable enzyme activity
F295S
a naturally occuring missense mutation associated with the Canavan disease, the mutant shows loss of van der Waals contacts
F295S
10% activity compared to native enzyme form, the stabilities against denaturation induced by heating and by a 1 M urea solution (conformational stability) are considerably lower for the mutant than for native form of the enzyme, mutation responsible for the Canavan disease
F295S
the decreased availability of the active site for substrate molecules in the mutated enzymes explains their diminishing activity observed in clinical experiments. The variant is associated with the mild or variable form of Canavan disease
F295S
the pathogenicity, stability, conservation, change in structural pattern, influence of the mutations on substrate binding of the crystallized mutations (K213E, Y231C, E285A, F295S, I143V and V186D) is compared
K213E
Canavan disease mutation, undetectable enzyme activity
K213E
a naturally occuring missense mutation associated with a mild phenotype of Canavan disease, a nonconservative mutant, has minimal structural differences compared to the wild-type enzyme
K213E
the pathogenicity, stability, conservation, change in structural pattern, influence of the mutations on substrate binding of the crystallized mutations (K213E, Y231C, E285A, F295S, I143V and V186D) is compared. The mutant K213E is found to be least conserved, and the substrate binding affinity is found to be minimal
K213E
the point mutation does not affect the catalytic function of the enzyme
R63N
undetectable ASPA activity
R63N
the mutation results in undetectable activity
Y231C
a naturally occuring missense mutation associated with the Canavan disease, the mutant shows loss of hydrophobic and hydrogen bonding interactions. The mutation leads to a local collapse of the hydrophobic core structure in the carboxyl-terminal domain, contributing to a decrease in protein stability
Y231C
24% activity compared to native enzyme form, the stabilities against denaturation induced by heating and by a 1 M urea solution (conformational stability) are considerably lower for the mutant than for native form of the enzyme, mutation responsible for the Canavan disease
Y231C
the decreased availability of the active site for substrate molecules in the mutated enzymes explains their diminishing activity observed in clinical experiments. The variant is associated with the mild or variable form of Canavan disease
Y231C
the pathogenicity, stability, conservation, change in structural pattern, influence of the mutations on substrate binding of the crystallized mutations (K213E, Y231C, E285A, F295S, I143V and V186D) is compared
additional information
synthesis of PEGylated enzyme by treatment of enzyme samples with amethoxy-PEG reagent containing terminal activating aldehyde or ester groups attached with a carboxymethyl linker, purification of the protein-PEG conjugates by anion exchange chromatography, labeling with a covalently attached fluorescent tag, method optimization, overview
additional information
-
Canavan disease is a rare recessive genetic neurodegenerative brain disorder that is associated with many different mutations in the gene encoding aspartoacylase
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