Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease
about
Expression and localization of myosin-1d in the developing nervous systemMutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism.Impact of gene patents and licensing practices on access to genetic testing and carrier screening for Tay-Sachs and Canavan diseaseAspartoacylase-lacZ knockin mice: an engineered model of Canavan diseaseStructure of aspartoacylase, the brain enzyme impaired in Canavan diseaseExamination of the Mechanism of Human Brain Aspartoacylase through the Binding of an Intermediate Analogue † , ‡Characterization of human aspartoacylase: the brain enzyme responsible for Canavan diseaseIdentification of the zinc binding ligands and the catalytic residue in human aspartoacylase, an enzyme involved in Canavan diseaseMutational analysis of aspartoacylase: implications for Canavan diseaseLocalisation of N-acetylaspartate in oligodendrocytes/myelinFirst- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPs.A new mouse model of Canavan leukodystrophy displays hearing impairment due to central nervous system dysmyelinationNur7 is a nonsense mutation in the mouse aspartoacylase gene that causes spongy degeneration of the CNSA single intravenous rAAV injection as late as P20 achieves efficacious and sustained CNS Gene therapy in Canavan mice.Redirecting N-acetylaspartate metabolism in the central nervous system normalizes myelination and rescues Canavan disease.Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature.N-Acetylaspartate in the CNS: from neurodiagnostics to neurobiology.Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin.Prenatal diagnosis of Canavan disease.The key is in the genes, or is it...? With the human genome project completed, the question is 'what comes next'?Defective N-acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan's disease.Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.Long-term follow-up after gene therapy for canavan disease.Commercial molecular diagnostics in the U.S.: The Human Genome Project to the clinical laboratory.Nuclear-cytoplasmic localization of acetyl coenzyme a synthetase-1 in the rat brain.Canavan disease: mutations among Jewish and non-Jewish patients.Extensive aspartoacylase expression in the rat central nervous system.Loss of central auditory processing in a mouse model of Canavan disease.Transcriptional regulation of N-acetylaspartate metabolism in the 5xFAD model of Alzheimer's disease: evidence for neuron-glia communication during energetic crisis.Molecular basis of Canavan's disease: from human to mouse.Carrier testing for autosomal-recessive disorders.The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patientsDevelopment and integration of molecular genetic tests into clinical practice: the US experience.Making the White Matter Matters: Progress in Understanding Canavan's Disease and Therapeutic Interventions Through Eight Decades.Clinical applications involving CNS gene transfer.A structural and functional analysis of Nna1 in Purkinje cell degeneration (pcd) mice.Differential aminoacylase expression in neuroblastoma.Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.Extracellular N-Acetylaspartate in Human Traumatic Brain Injury.rAAV Gene Therapy in a Canavan's Disease Mouse Model Reveals Immune Impairments and an Extended Pathology Beyond the Central Nervous System.
P2860
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P2860
Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease
description
1993 nî lūn-bûn
@nan
1993 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Cloning of the human aspartoac ...... se mutation in Canavan disease
@ast
Cloning of the human aspartoac ...... se mutation in Canavan disease
@en
Cloning of the human aspartoac ...... se mutation in Canavan disease
@en-gb
Cloning of the human aspartoac ...... se mutation in Canavan disease
@nl
type
label
Cloning of the human aspartoac ...... se mutation in Canavan disease
@ast
Cloning of the human aspartoac ...... se mutation in Canavan disease
@en
Cloning of the human aspartoac ...... se mutation in Canavan disease
@en-gb
Cloning of the human aspartoac ...... se mutation in Canavan disease
@nl
prefLabel
Cloning of the human aspartoac ...... se mutation in Canavan disease
@ast
Cloning of the human aspartoac ...... se mutation in Canavan disease
@en
Cloning of the human aspartoac ...... se mutation in Canavan disease
@en-gb
Cloning of the human aspartoac ...... se mutation in Canavan disease
@nl
P2093
P2860
P356
P1433
P1476
Cloning of the human aspartoac ...... se mutation in Canavan disease
@en
P2093
P2860
P2888
P304
P356
10.1038/NG1093-118
P407
P577
1993-10-01T00:00:00Z
P5875
P6179
1035589656