Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications
about
Identification and characterization of 15 novel GALC gene mutations causing Krabbe diseaseMolecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperonesInsights into Krabbe disease from structures of galactocerebrosidaseStructural snapshots illustrate the catalytic cycle of β-galactocerebrosidase, the defective enzyme in Krabbe disease.New therapeutic approaches for Krabbe disease: The potential of pharmacological chaperonesDiffusion tensor imaging detects axonal injury and demyelination in the spinal cord and cranial nerves of a murine model of globoid cell leukodystrophy.GALC deletions increase the risk of primary open-angle glaucoma: the role of Mendelian variants in complex diseaseA high-throughput screening assay using Krabbe disease patient cells.Effect of vitamin D3 intake on the onset of disease in a murine model of human Krabbe disease.Early axonal loss accompanied by impaired endocytosis, abnormal axonal transport, and decreased microtubule stability occur in the model of Krabbe's disease.Sneak peak at galactocerebrosidase, Krabbe disease's lysosomal hydrolaseDisease specific therapies in leukodystrophies and leukoencephalopathies.Azasugar inhibitors as pharmacological chaperones for Krabbe diseasePromising Loci and Genes for Yolk and Ovary Weight in Chickens Revealed by a Genome-Wide Association Study.Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report.Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease.Mesenchymal lineage stem cells have pronounced anti-inflammatory effects in the twitcher mouse model of Krabbe's diseaseBone marrow transplantation increases efficacy of central nervous system-directed enzyme replacement therapy in the murine model of globoid cell leukodystrophyNewborn screening and the era of medical genomics.Astrocytes and lysosomal storage diseases.Clinical and immunopathologic alterations in rhesus macaques affected with globoid cell leukodystrophyLysosomal Storage Diseases-Regulating Neurodegeneration.Krabbe Disease in the Arab World.Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe diseaseMouse forward genetics in the study of the peripheral nervous system and human peripheral neuropathyLarge animal models of neurological disorders for gene therapy.Intrathecal administration of AAV/GALC vectors in 10-11-day-old twitcher mice improves survival and is enhanced by bone marrow transplantThe Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.Characterization and application of a disease-cell model for a neurodegenerative lysosomal disease.Neuronal inclusions of α-synuclein contribute to the pathogenesis of Krabbe disease.Molecular genetics in glaucoma.Emerging treatments for pediatric leukodystrophies.Cell-based high-throughput screening identifies galactocerebrosidase enhancers as potential small-molecule therapies for Krabbe's disease.Heterozygote galactocerebrosidase (GALC) mutants have reduced remyelination and impaired myelin debris clearance following demyelinating injury.Ultrastructural Characterization of the Lower Motor System in a Mouse Model of Krabbe Disease.Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants.Role of extracellular calcium and mitochondrial oxygen species in psychosine-induced oligodendrocyte cell death.Biochemical, cell biological, pathological, and therapeutic aspects of Krabbe's disease.Major review: Molecular genetics of primary open-angle glaucoma.Evidence for improved survival in postsymptomatic stem cell-transplanted patients with Krabbe's disease.
P2860
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P2860
Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications
description
1997 nî lūn-bûn
@nan
1997 թուականին հրատարակուած գիտական յօդուած
@hyw
1997 թվականին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Molecular genetics of Krabbe d ...... stic and clinical implications
@ast
Molecular genetics of Krabbe d ...... stic and clinical implications
@en
Molecular genetics of Krabbe d ...... stic and clinical implications
@nl
type
label
Molecular genetics of Krabbe d ...... stic and clinical implications
@ast
Molecular genetics of Krabbe d ...... stic and clinical implications
@en
Molecular genetics of Krabbe d ...... stic and clinical implications
@nl
prefLabel
Molecular genetics of Krabbe d ...... stic and clinical implications
@ast
Molecular genetics of Krabbe d ...... stic and clinical implications
@en
Molecular genetics of Krabbe d ...... stic and clinical implications
@nl
P2093
P3181
P1433
P1476
Molecular genetics of Krabbe d ...... stic and clinical implications
@en
P2093
P304
P3181
P356
10.1002/(SICI)1098-1004(1997)10:4<268::AID-HUMU2>3.3.CO;2-M
P407
P577
1997-01-01T00:00:00Z