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Astrocytoma
Increased activity of lysosomal glycohydrolases in glioma tissue and surrounding areas from human brain.
Ataxia
Clinical signs and neuropathologic abnormalities in working Australian Kelpies with globoid cell leukodystrophy (Krabbe disease).
beta-galactosidase deficiency
[Two adult patients with GM1 ganglioside beta-galactosidase deficiency, showing myoclonus without radiological bony abnormalities]
Carcinoma
Implications of galactocerebrosidase and galactosylcerebroside metabolism in cancer cells.
Carcinoma
Transcriptional repression of the human galactocerebrosidase gene in squamous cell carcinomas of the larynx.
Carcinoma, Squamous Cell
Implications of galactocerebrosidase and galactosylcerebroside metabolism in cancer cells.
Carcinoma, Squamous Cell
Transcriptional repression of the human galactocerebrosidase gene in squamous cell carcinomas of the larynx.
Central Nervous System Diseases
AAV2/5 vector expressing galactocerebrosidase ameliorates CNS disease in the murine model of globoid-cell leukodystrophy more efficiently than AAV2.
Cerebral Palsy
Late infantile Krabbe leukodystrophy: MRI and evoked potentials in a Japanese girl.
Cytochrome-c Oxidase Deficiency
Lactic acid elevation in extramitochondrial childhood neurodegenerative diseases.
Demyelinating Diseases
Aberrant production of tenascin-C in globoid cell leukodystrophy alters psychosine-induced microglial functions.
Demyelinating Diseases
Adult Krabbe Disease That Was Successfully Treated with Intravenous Immunoglobulin.
Demyelinating Diseases
Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene. Unusual MRI findings of corticospinal tract demyelination.
Demyelinating Diseases
Adult-onset Krabbe's disease in siblings with novel mutations in the galactocerebrosidase gene.
Demyelinating Diseases
Autonomic denervation of lymphoid organs leads to epigenetic immune atrophy in a mouse model of Krabbe disease.
Demyelinating Diseases
Bone marrow transplantation augments the effect of brain- and spinal cord-directed adeno-associated virus 2/5 gene therapy by altering inflammation in the murine model of globoid-cell leukodystrophy.
Demyelinating Diseases
Brainstem development requires galactosylceramidase and is critical for pathogenesis in a model of Krabbe disease.
Demyelinating Diseases
Central nervous system pathology progresses independently of KC and CXCR2 in globoid-cell leukodystrophy.
Demyelinating Diseases
Challenge of phenotype estimation for optimal treatment of Krabbe disease.
Demyelinating Diseases
Design and optimization of lentiviral vectors for transfer of GALC expression in Twitcher brain.
Demyelinating Diseases
Distribution and characterization of GFP(+) donor hematogenous cells in Twitcher mice after bone marrow transplantation.
Demyelinating Diseases
Effect of vitamin D3 intake on the onset of disease in a murine model of human Krabbe disease.
Demyelinating Diseases
Enhanced Efficacy and Increased Long-Term Toxicity of CNS-Directed, AAV-Based Combination Therapy for Krabbe Disease.
Demyelinating Diseases
GALC transduction leads to morphological improvement of the twitcher oligodendrocytes in vivo.
Demyelinating Diseases
Genetic ablation of acid ceramidase in Krabbe disease confirms the psychosine hypothesis and identifies a new therapeutic target.
Demyelinating Diseases
Hematopoietic cell transplantation ameliorates clinical phenotype and progression of the CNS pathology in the mouse model of late onset Krabbe disease.
Demyelinating Diseases
Hybrid Nanoparticles as a Novel Tool for Regulating Psychosine-Induced Neuroinflammation and Demyelination In Vitro and Ex vivo.
Demyelinating Diseases
IL-6 deficiency allows for enhanced therapeutic value after bone marrow transplantation across a minor histocompatibility barrier in the twitcher (globoid cell leukodystrophy) mouse.
Demyelinating Diseases
Innate immune activation in the pathogenesis of a murine model of globoid cell leukodystrophy.
Demyelinating Diseases
Insights into Krabbe disease from structures of galactocerebrosidase.
Demyelinating Diseases
Intracranial calcification after cord blood neonatal transplantation for krabbe disease.
Demyelinating Diseases
Mesenchymal Stem Cells Yield Transient Improvements in Motor Function in an Infant Rhesus Macaque With Severe Early-Onset Krabbe Disease.
Demyelinating Diseases
Mesenchymal Stem Cells Yield Transient Improvements in Motor Function in an Infant Rhesus Macaque with Severe Early-Onset Krabbe Disease.
Demyelinating Diseases
MMP-3 mediates psychosine-induced globoid cell formation: Implications for leukodystrophy pathology.
Demyelinating Diseases
Murine model of genetic demyelinating disease: the twitcher mouse.
Demyelinating Diseases
Pathogenic Variants in GALC Gene Correlate With Late Onset Krabbe Disease and Vision Loss: Case Series and Review of Literature.
Demyelinating Diseases
Primary Bone Marrow Mesenchymal Stromal Cells Rescue the Axonal Phenotype of Twitcher Mice.
Demyelinating Diseases
Psychosine-induced apoptosis in a mouse oligodendrocyte progenitor cell line is mediated by caspase activation.
Demyelinating Diseases
Reduction in miR-219 expression underlies cellular pathogenesis of oligodendrocytes in a mouse model of Krabbe disease.
Demyelinating Diseases
Responses to cyclic AMP is impaired in the twitcher Schwann cells in vitro.
Demyelinating Diseases
Substrate reduction intervention by L-cycloserine in twitcher mice (globoid cell leukodystrophy) on a B6;CAST/Ei background.
Demyelinating Diseases
Substrate-reduction therapy enhances the benefits of bone marrow transplantation in young mice with globoid cell leukodystrophy.
Demyelinating Diseases
The sphingolipid psychosine inhibits fast axonal transport in Krabbe disease by activation of GSK3? and deregulation of molecular motors.
Demyelinating Diseases
[Krabbe disease (globoid cell leukodystrophy)]
galactosylceramidase deficiency
A case of Krabbe's leukodystrophy without globoid cells.
galactosylceramidase deficiency
A combined artificial chromosome-stem cell therapy method in a model experiment aimed at the treatment of Krabbe's disease in the Twitcher mouse.
galactosylceramidase deficiency
Analysis of galactosylsphingosine (psychosine) in the brain.
galactosylceramidase deficiency
Autonomic denervation of lymphoid organs leads to epigenetic immune atrophy in a mouse model of Krabbe disease.
galactosylceramidase deficiency
Beyond Krabbe's disease: The potential contribution of galactosylceramidase deficiency to neuronal vulnerability in late-onset synucleinopathies.
galactosylceramidase deficiency
Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report.
galactosylceramidase deficiency
Comparative clinico-pathological study of saposin-A-deficient (SAP-A-/-) and Twitcher mice.
galactosylceramidase deficiency
Correction of the galactocerebrosidase deficiency in globoid cell leukodystrophy-cultured cells by SL3-3 retroviral-mediated gene transfer.
galactosylceramidase deficiency
Donor-derived cells in the central nervous system of twitcher mice after bone marrow transplantation.
galactosylceramidase deficiency
Dramatic phenotypic improvement during pregnancy in a genetic leukodystrophy: estrogen appears to be a critical factor.
galactosylceramidase deficiency
Experimental therapies in the murine model of globoid cell leukodystrophy.
galactosylceramidase deficiency
Galactocerebrosidase deficiency in globoid cell leucodystrophy of late onset.
galactosylceramidase deficiency
Galactosylceramidase deficiency causes sperm abnormalities in the mouse model of globoid cell leukodystrophy.
galactosylceramidase deficiency
Generation of a LacZ reporter transgenic mouse line for the stereological analysis of oligodendrocyte loss in galactosylceramidase deficiency.
galactosylceramidase deficiency
Genetic galactocerebrosidase deficiency (globoid cell leukodystrophy, Krabbe disease) in rhesus monkeys (Macaca mulatta).
galactosylceramidase deficiency
Genetic galactosylceramidase deficiency (globoid cell leukodystrophy, Krabbe disease) in different mammalian species.
galactosylceramidase deficiency
Globoid cell leukodystrophy (Krabbe's disease): update.
galactosylceramidase deficiency
Hematopoietic cell transplantation after administration of high-dose busulfan in murine globoid cell leukodystrophy (the twitcher mouse).
galactosylceramidase deficiency
Hematopoietic cell transplantation in the twitcher mouse. The effects of pretransplant conditioning with graded doses of busulfan.
galactosylceramidase deficiency
Human brain cerebroside beta-galactosidase: deficiency of transgalactosidic activity in Krabbe's disease.
galactosylceramidase deficiency
Inhibition of cytokinesis by a lipid metabolite, psychosine.
galactosylceramidase deficiency
Krabbe disease in monozygotic triplets.
galactosylceramidase deficiency
Late infantile onset krabbe disease in siblings with cortical degeneration and absence of cerebral globoid cells.
galactosylceramidase deficiency
Late-onset globoid cell leukodystrophy: unusual ultrastructural pathology and subtotal beta-galactocerebrosidase deficiency.
galactosylceramidase deficiency
Late-onset Krabbe disease (globoid cell leukodystrophy): clinical and biochemical features of 15 cases.
galactosylceramidase deficiency
Lipids of developing brain of twitcher mouse. An authentic murine model of human Krabbe disease.
galactosylceramidase deficiency
Myelin deterioration in Twitcher mice: motor evoked potentials and magnetic resonance imaging as in vivo monitoring tools.
galactosylceramidase deficiency
Paradoxical influence of acid beta-galactosidase gene dosage on phenotype of the twitcher mouse (genetic galactosylceramidase deficiency).
galactosylceramidase deficiency
Peripheral neuropathy in the twitcher mouse: accumulation of extracellular matrix in the endoneurium and aberrant expression of ion channels.
galactosylceramidase deficiency
Progressive accumulation of toxic metabolite in a genetic leukodystrophy.
galactosylceramidase deficiency
Prolonged survival and remyelination after hematopoietic cell transplantation in the twitcher mouse.
galactosylceramidase deficiency
Psychosine-induced apoptosis and cytokine activation in immune peripheral cells of Krabbe patients.
galactosylceramidase deficiency
Research update on lysosomal disorders with special emphasis on metachromatic leukodystrophy and Krabbe disease.
galactosylceramidase deficiency
The Second Case of Saposin A Deficiency and Altered Autophagy.
galactosylceramidase deficiency
[From gene to disease; Krabbe disease and galactosylceramidase deficiency]
galactosylceramidase deficiency
[Two adult patients with GM1 ganglioside beta-galactosidase deficiency, showing myoclonus without radiological bony abnormalities]
Gangliosidosis, GM1
Application of a GM1 ganglioside beta-galactosidase microassay method to diagnosis of GM1 gangliosidosis.
Gangliosidosis, GM1
GM1 gangliosidosis: phenotypic variation in a single family.
Gangliosidosis, GM1
Human brain cerebroside beta-galactosidase: deficiency of transgalactosidic activity in Krabbe's disease.
Gangliosidosis, GM1
Human placental beta-galactosidase. Characterization of the dimer and complex forms of the enzyme.
Gangliosidosis, GM1
Hydrolysis of galactosylceramide is catalyzed by two genetically distinct acid beta-galactosidases.
Gangliosidosis, GM1
Hydrolysis of galactosylsphingosine and lactosylsphingosine by beta-galactosidases in human brain and cultured fibroblasts.
Gangliosidosis, GM1
[Two adult patients with GM1 ganglioside beta-galactosidase deficiency, showing myoclonus without radiological bony abnormalities]
Gaucher Disease
Sequence, structural, functional, and phylogenetic analyses of three glycosidase families.
Genetic Diseases, Inborn
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease.
Genetic Diseases, Inborn
Genetic galactosylceramidase deficiency (globoid cell leukodystrophy, Krabbe disease) in different mammalian species.
Genetic Diseases, Inborn
Molecular dynamics simulations to decipher the structural and functional consequences of pathogenic missense mutations in the galactosylceramidase (GALC) protein causing Krabbe's disease.
Genetic Diseases, Inborn
Neuropathology of twitcher mice: examination by histochemistry, immunohistochemistry, lectin histochemistry and Fourier transform infrared microspectroscopy.
Glaucoma
No Evidence of Association of Heterozygous Galactosylceramidase Deletion With Normal-Tension Glaucoma in a Korean Population.
Glaucoma, Open-Angle
No Evidence of Association of Heterozygous Galactosylceramidase Deletion With Normal-Tension Glaucoma in a Korean Population.
Glioblastoma
Increased activity of lysosomal glycohydrolases in glioma tissue and surrounding areas from human brain.
Head and Neck Neoplasms
DNA promoter hypermethylation contributes to down-regulation of galactocerebrosidase gene in lung and head and neck cancers.
Leukodystrophy, Globoid Cell
A case of Krabbe's leukodystrophy without globoid cells.
Leukodystrophy, Globoid Cell
A case of late variant form of infantile Krabbe disease with a partial deficiency of galactocerebrosidase.
Leukodystrophy, Globoid Cell
A combined artificial chromosome-stem cell therapy method in a model experiment aimed at the treatment of Krabbe's disease in the Twitcher mouse.
Leukodystrophy, Globoid Cell
A galactose-free diet enriched in soy isoflavones and antioxidants results in delayed onset of symptoms of Krabbe disease in twitcher mice.
Leukodystrophy, Globoid Cell
A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease.
Leukodystrophy, Globoid Cell
A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse.
Leukodystrophy, Globoid Cell
A new compound heterozygous mutation in adult-onset Krabbe disease.
Leukodystrophy, Globoid Cell
A novel homozygous GALC mutation: very early onset and rapidly progressive Krabbe disease.
Leukodystrophy, Globoid Cell
A practical chromogenic procedure for the diagnosis of Krabbe's disease.
Leukodystrophy, Globoid Cell
A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life.
Leukodystrophy, Globoid Cell
A protein activator of galactosylceramide beta-galactosidase.
Leukodystrophy, Globoid Cell
A Specific Activity-Based Probe to Monitor Family GH59 Galactosylceramidase, the Enzyme Deficient in Krabbe Disease.
Leukodystrophy, Globoid Cell
AAV-mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy.
Leukodystrophy, Globoid Cell
AAVrh10 gene therapy ameliorates central and peripheral nervous system disease in canine globoid cell leukodystrophy (Krabbe disease).
Leukodystrophy, Globoid Cell
Aberrant production of tenascin-C in globoid cell leukodystrophy alters psychosine-induced microglial functions.
Leukodystrophy, Globoid Cell
Adult Krabbe Disease That Was Successfully Treated with Intravenous Immunoglobulin.
Leukodystrophy, Globoid Cell
Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients.
Leukodystrophy, Globoid Cell
Adult-onset Krabbe disease in two generations of a Chinese family.
Leukodystrophy, Globoid Cell
Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene. Unusual MRI findings of corticospinal tract demyelination.
Leukodystrophy, Globoid Cell
Adult-onset Krabbe's disease in siblings with novel mutations in the galactocerebrosidase gene.
Leukodystrophy, Globoid Cell
Advances in the Diagnosis and Treatment of Krabbe Disease.
Leukodystrophy, Globoid Cell
Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity.
Leukodystrophy, Globoid Cell
An Engineered Galactosylceramidase Construct Improves AAV Gene Therapy for Krabbe Disease in Twitcher Mice.
Leukodystrophy, Globoid Cell
Analysis of the 5' flanking region of the human galactocerebrosidase (GALC) gene.
Leukodystrophy, Globoid Cell
Application of a galactosylceramidase microassay method to early prenatal diagnosis of Krabbe's disease.
Leukodystrophy, Globoid Cell
Autonomic denervation of lymphoid organs leads to epigenetic immune atrophy in a mouse model of Krabbe disease.
Leukodystrophy, Globoid Cell
Beyond Krabbe's disease: The potential contribution of galactosylceramidase deficiency to neuronal vulnerability in late-onset synucleinopathies.
Leukodystrophy, Globoid Cell
Biochemical and pathological evaluation of long-lived mice with globoid cell leukodystrophy after bone marrow transplantation.
Leukodystrophy, Globoid Cell
Biochemical aspects of globoid and metachromatic leukodystrophies.
Leukodystrophy, Globoid Cell
Bone marrow transplantation increases efficacy of central nervous system-directed enzyme replacement therapy in the murine model of globoid cell leukodystrophy.
Leukodystrophy, Globoid Cell
Brain-targeted enzyme-loaded nanoparticles: A breach through the blood-brain barrier for enzyme replacement therapy in Krabbe disease.
Leukodystrophy, Globoid Cell
Brainstem development requires galactosylceramidase and is critical for pathogenesis in a model of Krabbe disease.
Leukodystrophy, Globoid Cell
Can early treatment of twitcher mice with high dose AAVrh10-GALC eliminate the need for BMT?
Leukodystrophy, Globoid Cell
Can psychosine and galactocerebrosidase activity predict early-infantile Krabbe's disease presymptomatically?
Leukodystrophy, Globoid Cell
Cell-autonomous expression of the acid hydrolase galactocerebrosidase.
Leukodystrophy, Globoid Cell
Cell-based high-throughput screening identifies galactocerebrosidase enhancers as potential small-molecule therapies for Krabbe's disease.
Leukodystrophy, Globoid Cell
Cellular transplant therapies for globoid cell leukodystrophy: Preclinical and clinical observations.
Leukodystrophy, Globoid Cell
Cellular uptake and lysosomal delivery of galactocerebrosidase tagged with the HIV Tat protein transduction domain.
Leukodystrophy, Globoid Cell
Cerebrospinal fluid and serum glycosphingolipid biomarkers in canine globoid cell leukodystrophy (Krabbe Disease).
Leukodystrophy, Globoid Cell
Challenge of phenotype estimation for optimal treatment of Krabbe disease.
Leukodystrophy, Globoid Cell
Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations.
Leukodystrophy, Globoid Cell
Characterization of 6-hexadecanoylamino-4-methylumbelliferyl-beta-D- galactopyranoside as fluorogenic substrate of galactocerebrosidase for the diagnosis of Krabbe disease.
Leukodystrophy, Globoid Cell
Characterization of adipose-derived stromal/stem cells from the twitcher mouse model of Krabbe disease.
Leukodystrophy, Globoid Cell
Characterization of the GALC gene in three Japanese patients with adult-onset Krabbe disease.
Leukodystrophy, Globoid Cell
Characterization of the large deletion in the GALC gene found in patients with Krabbe disease.
Leukodystrophy, Globoid Cell
Characterization of the rhesus monkey galactocerebrosidase (GALC) cDNA and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primate.
Leukodystrophy, Globoid Cell
Chemical pathology of krabbe's disease. IV. Studies of galactosylceramide and lactosylceramide BETA-galactosidases in brain, white blood cells and aminotic fluid cells.
Leukodystrophy, Globoid Cell
Clinical and biochemical heterogeneity of globoid cell leukodystrophy.
Leukodystrophy, Globoid Cell
Clinical and immunopathologic alterations in rhesus macaques affected with globoid cell leukodystrophy.
Leukodystrophy, Globoid Cell
Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report.
Leukodystrophy, Globoid Cell
Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases.
Leukodystrophy, Globoid Cell
Clinical management of Krabbe disease.
Leukodystrophy, Globoid Cell
Clinical, electrophysiological, and biochemical markers of peripheral and central nervous system disease in canine globoid cell leukodystrophy (Krabbe's disease).
Leukodystrophy, Globoid Cell
Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy.
Leukodystrophy, Globoid Cell
Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn terriers.
Leukodystrophy, Globoid Cell
CNS-targeted AAV5 gene transfer results in global dispersal of vector and prevention of morphological and function deterioration in CNS of globoid cell leukodystrophy mouse model.
Leukodystrophy, Globoid Cell
Combined hematopoietic and lentiviral gene-transfer therapies in newborn Twitcher mice reveal contemporaneous neurodegeneration and demyelination in Krabbe disease.
Leukodystrophy, Globoid Cell
Comparative clinico-pathological study of saposin-A-deficient (SAP-A-/-) and Twitcher mice.
Leukodystrophy, Globoid Cell
Compound Galactosylceramidase Gene (GALC) Heterozygosity in a Boy with Infantile Krabbe Disease (KD).
Leukodystrophy, Globoid Cell
Conditions for combining gene therapy with bone marrow transplantation in murine Krabbe disease.
Leukodystrophy, Globoid Cell
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease.
Leukodystrophy, Globoid Cell
Correction of the galactocerebrosidase deficiency in globoid cell leukodystrophy-cultured cells by SL3-3 retroviral-mediated gene transfer.
Leukodystrophy, Globoid Cell
Decreased fatty acylation of myelin proteolipid protein in the twitcher mouse.
Leukodystrophy, Globoid Cell
Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease.
Leukodystrophy, Globoid Cell
Design and optimization of lentiviral vectors for transfer of GALC expression in Twitcher brain.
Leukodystrophy, Globoid Cell
Design of a regulated lentiviral vector for hematopoietic stem cell gene therapy of globoid cell leukodystrophy.
Leukodystrophy, Globoid Cell
Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe disease.
Leukodystrophy, Globoid Cell
Developmental and Functional Outcomes in Children with a Positive Newborn Screen for Krabbe Disease: A Pilot Study of a Phone-Based Interview Surveillance Technique.
Leukodystrophy, Globoid Cell
Developmental defects and aberrant accumulation of endogenous psychosine in oligodendrocytes in a murine model of Krabbe disease.
Leukodystrophy, Globoid Cell
Diagnosis of Krabbe disease by use of a natural substrate.
Leukodystrophy, Globoid Cell
Differentiation of rare leukodystrophies by post-mortem morphological and biochemical studies: female adrenoleukodystrophy-like disease and late-onset Krabbe disease.
Leukodystrophy, Globoid Cell
Diffusion tensor imaging detects axonal injury and demyelination in the spinal cord and cranial nerves of a murine model of globoid cell leukodystrophy.
Leukodystrophy, Globoid Cell
Donor-derived cells in the central nervous system of twitcher mice after bone marrow transplantation.
Leukodystrophy, Globoid Cell
Early infantile Krabbe disease: deceptively normal magnetic resonance imaging and serial neurophysiological studies.
Leukodystrophy, Globoid Cell
Early infantile krabbe disease: results of the world-wide krabbe registry.
Leukodystrophy, Globoid Cell
Effect of vitamin D3 intake on the onset of disease in a murine model of human Krabbe disease.
Leukodystrophy, Globoid Cell
Effects of treatments on inflammatory and apoptotic markers in the CNS of mice with globoid cell leukodystrophy.
Leukodystrophy, Globoid Cell
Electron microscopic finding of eccrine sweat gland epithelial cells in a patient with Krabbe disease.
Leukodystrophy, Globoid Cell
Enhanced Efficacy and Increased Long-Term Toxicity of CNS-Directed, AAV-Based Combination Therapy for Krabbe Disease.
Leukodystrophy, Globoid Cell
Enzyme replacement therapy results in substantial improvements in early clinical phenotype in a mouse model of globoid cell leukodystrophy.
Leukodystrophy, Globoid Cell
Establishment and characterization of spontaneously immortalized Schwann cells from murine model of globoid cell leukodystrophy (twitcher).
Leukodystrophy, Globoid Cell
Ethical issues with testing and treatment for Krabbe disease.
Leukodystrophy, Globoid Cell
Experimental therapies in the murine model of globoid cell leukodystrophy.
Leukodystrophy, Globoid Cell
Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease.
Leukodystrophy, Globoid Cell
Extended Normal Life After AAVrh10-mediated Gene Therapy in the Mouse Model of Krabbe Disease.
Leukodystrophy, Globoid Cell
Fingolimod rescues demyelination in a mouse model of Krabbe's disease.
Leukodystrophy, Globoid Cell
Fluorimetric assay with a novel substrate for quantification of galactocerebrosidase activity in dried blood spot specimens.
Leukodystrophy, Globoid Cell
Four novel GALC gene mutations in two Chinese patients with Krabbe disease.
Leukodystrophy, Globoid Cell
Galactocerebrosidase activity by liquid-chromatography tandem mass spectrometry for clinical diagnosis of Krabbe disease.
Leukodystrophy, Globoid Cell
Galactocerebrosidase activity in canine globoid leukodystrophy.
Leukodystrophy, Globoid Cell
Galactocerebrosidase assay on dried-leukocytes impregnated in filter paper for the detection of Krabbe disease.
Leukodystrophy, Globoid Cell
Galactocerebrosidase deficiency in globoid cell leucodystrophy of late onset.
Leukodystrophy, Globoid Cell
Galactocerebrosidase-deficient oligodendrocytes maintain stable central myelin by exogenous replacement of the missing enzyme in mice.
Leukodystrophy, Globoid Cell
Galactosylceramidase deficiency causes sperm abnormalities in the mouse model of globoid cell leukodystrophy.
Leukodystrophy, Globoid Cell
Galactosylceramide beta-galactosidase in Krabbe disease: partial purification and characterization of the mutant enzyme.
Leukodystrophy, Globoid Cell
Galactosylceramide- and lactosylceramide-loading studies in cultured fibroblasts from normal individuals and patients with globoid cell leukodystrophy (Krabbe's disease) and GM1-gangliosidosis.
Leukodystrophy, Globoid Cell
Galactosylcerebrosidase activity in tissues of twitcher mice with and without bone marrow transplantation.
Leukodystrophy, Globoid Cell
GALC transduction leads to morphological improvement of the twitcher oligodendrocytes in vivo.
Leukodystrophy, Globoid Cell
GC-EI-MS analysis of fatty acid composition in brain and serum of twitcher mouse.
Leukodystrophy, Globoid Cell
Generation of a human induced pluripotent stem cell line PUMCi001-A from a patient with Krabbe disease.
Leukodystrophy, Globoid Cell
Generation of a LacZ reporter transgenic mouse line for the stereological analysis of oligodendrocyte loss in galactosylceramidase deficiency.
Leukodystrophy, Globoid Cell
Generation of a mouse with low galactocerebrosidase activity by gene targeting: a new model of globoid cell leukodystrophy (Krabbe disease).
Leukodystrophy, Globoid Cell
Genetic ablation of acid ceramidase in Krabbe disease confirms the psychosine hypothesis and identifies a new therapeutic target.
Leukodystrophy, Globoid Cell
Genetic background markedly influences vulnerability of the hippocampal neuronal organization in the "twitcher" mouse model of globoid cell leukodystrophy.
Leukodystrophy, Globoid Cell
Genetic galactocerebrosidase deficiency (globoid cell leukodystrophy, Krabbe disease) in rhesus monkeys (Macaca mulatta).
Leukodystrophy, Globoid Cell
Genetic galactosylceramidase deficiency (globoid cell leukodystrophy, Krabbe disease) in different mammalian species.
Leukodystrophy, Globoid Cell
Genotype and phenotype classification of 29 patients affected by Krabbe disease.
Leukodystrophy, Globoid Cell
Globoid cell leukodystrophy (Krabbe disease): Normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations.
Leukodystrophy, Globoid Cell
Globoid cell leukodystrophy (Krabbe's disease): update.
Leukodystrophy, Globoid Cell
Globoid cell leukodystrophy: a family with both late-infantile and adult type.
Leukodystrophy, Globoid Cell
Globoid cell leukodystrophy: the first case with antemortem diagnosis in Japan.
Leukodystrophy, Globoid Cell
Globoid cell-like leukodystrophy in a domestic longhaired cat.
Leukodystrophy, Globoid Cell
Glucosylceramide and galactosylceramide, small glycosphingolipids with significant impact on health and disease.
Leukodystrophy, Globoid Cell
Glycosynthase mediated synthesis of psychosine.
Leukodystrophy, Globoid Cell
Hematopoietic cell transplantation ameliorates clinical phenotype and progression of the CNS pathology in the mouse model of late onset Krabbe disease.
Leukodystrophy, Globoid Cell
Hematopoietic cell transplantation in murine globoid cell leukodystrophy (the twitcher mouse): effects on levels of galactosylceramidase, psychosine, and galactocerebrosides.
Leukodystrophy, Globoid Cell
Heterozygous carriers of galactocerebrosidase mutations that cause Krabbe disease have impaired microglial function and defective repair of myelin damage.
Leukodystrophy, Globoid Cell
High density on computed tomography in infantile Krabbe's disease: a case report.
Leukodystrophy, Globoid Cell
High-throughput screening of stem cell therapy for globoid cell leukodystrophy using automated neurophenotyping of twitcher mice.
Leukodystrophy, Globoid Cell
Human brain cerebroside beta-galactosidase: deficiency of transgalactosidic activity in Krabbe's disease.
Leukodystrophy, Globoid Cell
Human galactocerebrosidase gene: promoter analysis of the 5'-flanking region and structural organization.
Leukodystrophy, Globoid Cell
Hydrolysis of galactosylsphingosine and lactosylsphingosine by beta-galactosidases in human brain and cultured fibroblasts.
Leukodystrophy, Globoid Cell
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.
Leukodystrophy, Globoid Cell
Identification of hematopoietic stem cell-specific miRNAs enables gene therapy of globoid cell leukodystrophy.
Leukodystrophy, Globoid Cell
Impaired spermatogenesis in the twitcher mouse: A morphological evaluation from the seminiferous tubules to epididymal transit.
Leukodystrophy, Globoid Cell
Impairment of protein kinase C activity in twitcher Schwann cells in vitro.
Leukodystrophy, Globoid Cell
Increased isoprostanoid levels in brain from murine model of Krabbe disease - Relevance of isoprostanes, dihomo-isoprostanes and neuroprostanes to disease severity.
Leukodystrophy, Globoid Cell
Inhibition of cytokinesis by a lipid metabolite, psychosine.
Leukodystrophy, Globoid Cell
Innate immune activation in the pathogenesis of a murine model of globoid cell leukodystrophy.
Leukodystrophy, Globoid Cell
Insights into Krabbe disease from structures of galactocerebrosidase.
Leukodystrophy, Globoid Cell
Insights into the Pathogenesis and Treatment of Krabbe Disease.
Leukodystrophy, Globoid Cell
Insulin-like growth factor-1 provides protection against psychosine-induced apoptosis in cultured mouse oligodendrocyte progenitor cells using primarily the PI3K/Akt pathway.
Leukodystrophy, Globoid Cell
Intracranial calcification after cord blood neonatal transplantation for krabbe disease.
Leukodystrophy, Globoid Cell
Intrathecal administration of AAV/GALC vectors in 10-11-day-old twitcher mice improves survival and is enhanced by bone marrow transplant.
Leukodystrophy, Globoid Cell
Intravenous injection of AAVrh10-GALC after the neonatal period in twitcher mice results in significant expression in the central and peripheral nervous systems and improvement of clinical features.
Leukodystrophy, Globoid Cell
Intraventricular administration of recombinant adenovirus to neonatal twitcher mouse leads to clinicopathological improvements.
Leukodystrophy, Globoid Cell
Intrinsic resistance of neural stem cells to toxic metabolites may make them well suited for cell non-autonomous disorders: evidence from a mouse model of Krabbe leukodystrophy.
Leukodystrophy, Globoid Cell
Isolated pyramidal tract impairment in the central nervous system of adult-onset Krabbe disease with novel mutations in the GALC gene.
Leukodystrophy, Globoid Cell
Krabbe disease successfully treated via monotherapy of intrathecal gene therapy.
Leukodystrophy, Globoid Cell
Krabbe disease: an overview.
Leukodystrophy, Globoid Cell
Krabbe disease: an ultrastructural study of globoid cells and reactive astrocytes at the brain and optic nerves.
Leukodystrophy, Globoid Cell
Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards.
Leukodystrophy, Globoid Cell
Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase.
Leukodystrophy, Globoid Cell
Krabbe disease: New hope for an old disease.
Leukodystrophy, Globoid Cell
Krabbe disease: psychosine-mediated activation of phospholipase A2 in oligodendrocyte cell death.
Leukodystrophy, Globoid Cell
Krabbe disease: severe neonatal presentation with a family history of multiple sclerosis.
Leukodystrophy, Globoid Cell
Krabbe disease: the importance of early diagnosis for prognosis.
Leukodystrophy, Globoid Cell
Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation.
Leukodystrophy, Globoid Cell
Krabbe's globoid cell leukodystrophy: deficiency of galactocerebroside beta-galactosidase activity.
Leukodystrophy, Globoid Cell
L-cycloserine slows the clinical and pathological course in mice with globoid cell leukodystrophy (twitcher mice).
Leukodystrophy, Globoid Cell
Lactic acid elevation in extramitochondrial childhood neurodegenerative diseases.
Leukodystrophy, Globoid Cell
Lactosylceramidase assays for diagnosis of globoid cell leukodystrophy and GM1-gangliosidosis.
Leukodystrophy, Globoid Cell
Lactosylceramide beta-galactosidase in human sphingolipidoses. Evidence for two genetically distinct enzymes.
Leukodystrophy, Globoid Cell
Late infantile onset krabbe disease in siblings with cortical degeneration and absence of cerebral globoid cells.
Leukodystrophy, Globoid Cell
Late juvenile-onset Krabbe's disease.
Leukodystrophy, Globoid Cell
Late-onset globoid cell leukodystrophy: unusual ultrastructural pathology and subtotal beta-galactocerebrosidase deficiency.
Leukodystrophy, Globoid Cell
Late-onset Krabbe disease (globoid cell leukodystrophy): clinical and biochemical features of 15 cases.
Leukodystrophy, Globoid Cell
Late-onset Krabbe disease initially diagnosed as cerebroside sulfatase activator deficiency.
Leukodystrophy, Globoid Cell
Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form.
Leukodystrophy, Globoid Cell
Later onset phenotypes of Krabbe disease: results of the world-wide registry.
Leukodystrophy, Globoid Cell
Lipids of developing brain of twitcher mouse. An authentic murine model of human Krabbe disease.
Leukodystrophy, Globoid Cell
Lithium improves cell viability in psychosine-treated MO3.13 human oligodendrocyte cell line via autophagy activation.
Leukodystrophy, Globoid Cell
Localization of the Krabbe disease gene (GALC) on chromosome 14 by multipoint linkage analysis.
Leukodystrophy, Globoid Cell
Long-Term Improvement of Neurological Signs and Metabolic Dysfunction in a Mouse Model of Krabbe's Disease after Global Gene Therapy.
Leukodystrophy, Globoid Cell
Long-term Improvements in Lifespan and Pathology in CNS and PNS After BMT Plus One Intravenous Injection of AAVrh10-GALC in Twitcher Mice.
Leukodystrophy, Globoid Cell
Long-term neurodevelopmental outcomes of hematopoietic stem cell transplantation for late-infantile Krabbe disease.
Leukodystrophy, Globoid Cell
Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report.
Leukodystrophy, Globoid Cell
Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Post-Newborn Screening Evaluation of Krabbe Disease.
Leukodystrophy, Globoid Cell
Measurement of psychosine in dried blood spots - a possible improvement to newborn screening programs for Krabbe disease.
Leukodystrophy, Globoid Cell
Mechanism-based combination treatment dramatically increases therapeutic efficacy in murine globoid cell leukodystrophy.
Leukodystrophy, Globoid Cell
Mesenchymal lineage stem cells have pronounced anti-inflammatory effects in the twitcher mouse model of Krabbe's disease.
Leukodystrophy, Globoid Cell
Mesenchymal Stem Cells Yield Transient Improvements in Motor Function in an Infant Rhesus Macaque With Severe Early-Onset Krabbe Disease.
Leukodystrophy, Globoid Cell
Mesenchymal Stem Cells Yield Transient Improvements in Motor Function in an Infant Rhesus Macaque with Severe Early-Onset Krabbe Disease.
Leukodystrophy, Globoid Cell
Mesenchymal-Lineage Stem Cells Have Pronounced Anti-Inflammatory Effects in the Twitcher Mouse Model of Krabbe's Disease.
Leukodystrophy, Globoid Cell
Metabolic profiling reveals biochemical pathways and potential biomarkers associated with the pathogenesis of Krabbe disease.
Leukodystrophy, Globoid Cell
Metabolism of galactosylceramide in the twitcher mouse, an animal model of human globoid cell leukodystrophy.
Leukodystrophy, Globoid Cell
Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease.
Leukodystrophy, Globoid Cell
Mitigation of cerebellar neuropathy in globoid cell leukodystrophy mice by AAV-mediated gene therapy.
Leukodystrophy, Globoid Cell
MMP-3 mediates psychosine-induced globoid cell formation: Implications for leukodystrophy pathology.
Leukodystrophy, Globoid Cell
Molecular basis of late-life globoid cell leukodystrophy.
Leukodystrophy, Globoid Cell
Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones.
Leukodystrophy, Globoid Cell
Molecular cloning and expression of cDNA for murine galactocerebrosidase and mutation analysis of the twitcher mouse, a model of Krabbe's disease.
Leukodystrophy, Globoid Cell
Molecular cloning and knockdown of galactocerebrosidase in zebrafish: new insights into the pathogenesis of Krabbe's disease.
Leukodystrophy, Globoid Cell
Molecular defects in Krabbe disease.
Leukodystrophy, Globoid Cell
Molecular dynamics simulations to decipher the structural and functional consequences of pathogenic missense mutations in the galactosylceramidase (GALC) protein causing Krabbe's disease.
Leukodystrophy, Globoid Cell
Molecular heterogeneity of Krabbe disease.
Leukodystrophy, Globoid Cell
Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy.
Leukodystrophy, Globoid Cell
Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants.
Leukodystrophy, Globoid Cell
Morphological and molecular characterisation of Twitcher mouse spermatogenesis: an update.
Leukodystrophy, Globoid Cell
MRI and CT findings in Krabbe disease.
Leukodystrophy, Globoid Cell
Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease.
Leukodystrophy, Globoid Cell
Multipotent stromal cells alleviate inflammation, neuropathology, and symptoms associated with globoid cell leukodystrophy in the twitcher mouse.
Leukodystrophy, Globoid Cell
My encounters with Krabbe disease: A personal recollection of a 40-Year journey with young colleagues.
Leukodystrophy, Globoid Cell
Myelin deterioration in Twitcher mice: motor evoked potentials and magnetic resonance imaging as in vivo monitoring tools.
Leukodystrophy, Globoid Cell
Myoclonic seizures in Krabbe disease: a unique presentation in late-onset type.
Leukodystrophy, Globoid Cell
Neuropathology of twitcher mice: examination by histochemistry, immunohistochemistry, lectin histochemistry and Fourier transform infrared microspectroscopy.
Leukodystrophy, Globoid Cell
New Players in the Infertility of a Mouse Model of Lysosomal Storage Disease: The Hypothalamus-Pituitary-Gonadal Axis.
Leukodystrophy, Globoid Cell
Newborn screening for Krabbe disease in New York State: the first eight years' experience.
Leukodystrophy, Globoid Cell
Newborn Screening for Krabbe Disease-Illinois Experience: Role of Psychosine in Diagnosis of the Disease.
Leukodystrophy, Globoid Cell
Optic nerve enlargement in infantile form of Krabbe disease.
Leukodystrophy, Globoid Cell
Oxidative stress as a therapeutic target in globoid cell leukodystrophy.
Leukodystrophy, Globoid Cell
Pathogenesis of leukodystrophy for Krabbe disease: Molecular mechanism and clinical treatment.
Leukodystrophy, Globoid Cell
Pathogenic Variants in GALC Gene Correlate With Late Onset Krabbe Disease and Vision Loss: Case Series and Review of Literature.
Leukodystrophy, Globoid Cell
Perineuronal oligodendrocytes protect against neuronal apoptosis through the production of lipocalin-type prostaglandin D synthase in a genetic demyelinating model.
Leukodystrophy, Globoid Cell
Peripheral neuropathy in the twitcher mouse: accumulation of extracellular matrix in the endoneurium and aberrant expression of ion channels.
Leukodystrophy, Globoid Cell
Perspective on innovative therapies for globoid cell leukodystrophy.
Leukodystrophy, Globoid Cell
Pervasive supply of therapeutic lysosomal enzymes in the CNS of normal and Krabbe-affected non-human primates by intracerebral lentiviral gene therapy.
Leukodystrophy, Globoid Cell
Physicochemical characterization of psychosine by 1H nuclear magnetic resonance and electron microscopy.
Leukodystrophy, Globoid Cell
Prenatal diagnosis of globoid cell leukodystrophy (Krabbe's diseases). Third documented case.
Leukodystrophy, Globoid Cell
Primary Bone Marrow Mesenchymal Stromal Cells Rescue the Axonal Phenotype of Twitcher Mice.
Leukodystrophy, Globoid Cell
Progressive accumulation of toxic metabolite in a genetic leukodystrophy.
Leukodystrophy, Globoid Cell
Protracted course of Krabbe disease in an adult patient bearing a novel mutation.
Leukodystrophy, Globoid Cell
Psychosine is as potent an inducer of cell death as C6-ceramide in cultured fibroblasts and in MOCH-1 cells.
Leukodystrophy, Globoid Cell
Psychosine, a marker of Krabbe phenotype and treatment effect.
Leukodystrophy, Globoid Cell
Psychosine, the cytotoxic sphingolipid that accumulates in Globoid Cell Leukodystrophy, alters membrane architecture.
Leukodystrophy, Globoid Cell
Psychosine-induced apoptosis and cytokine activation in immune peripheral cells of Krabbe patients.
Leukodystrophy, Globoid Cell
Psychosine-induced apoptosis in a mouse oligodendrocyte progenitor cell line is mediated by caspase activation.
Leukodystrophy, Globoid Cell
Quantification of galactosylsphingosine in the twitcher mouse using electrospray ionization-tandem mass spectrometry.
Leukodystrophy, Globoid Cell
Quantification of psychosine in the serum of twitcher mouse by LC-ESI-tandem-MS analysis.
Leukodystrophy, Globoid Cell
Quantitative analysis of diffusion tensor imaging data in serial assessment of krabbe disease.
Leukodystrophy, Globoid Cell
Quantitative Microproteomics Based Characterization of the Central and Peripheral Nervous System of a Mouse Model of Krabbe Disease.
Leukodystrophy, Globoid Cell
Reduction in miR-219 expression underlies cellular pathogenesis of oligodendrocytes in a mouse model of Krabbe disease.
Leukodystrophy, Globoid Cell
Region- and age-dependent alterations of glial-neuronal metabolic interactions correlate with CNS pathology in a mouse model of globoid cell leukodystrophy.
Leukodystrophy, Globoid Cell
Report of a Case that Expands the Phenotype of Infantile Krabbe Disease.
Leukodystrophy, Globoid Cell
Research update on lysosomal disorders with special emphasis on metachromatic leukodystrophy and Krabbe disease.
Leukodystrophy, Globoid Cell
Retroviral-mediated transfer of the galactocerebrosidase gene in neural progenitor cells.
Leukodystrophy, Globoid Cell
Retrovirus-mediated gene transfer and galactocerebrosidase uptake into twitcher glial cells results in appropriate localization and phenotype correction.
Leukodystrophy, Globoid Cell
Role of endogenous psychosine accumulation in oligodendrocytes differentiation and survival: Implication for Krabbe disease.
Leukodystrophy, Globoid Cell
Role of extracellular calcium and mitochondrial oxygen species in psychosine-induced oligodendrocyte cell death.
Leukodystrophy, Globoid Cell
Saposins (sphingolipid activator proteins) in the twitcher mutant mouse.
Leukodystrophy, Globoid Cell
Screening for Krabbe disease: The first 2 years' experience.
Leukodystrophy, Globoid Cell
Screening, Synthesis, and Evaluation of Novel Isoflavone Derivatives as Inhibitors of Human Golgi ?-Galactosidase.
Leukodystrophy, Globoid Cell
Self-association of human beta-galactocerebrosidase: Dependence on pH, salt, and surfactant.
Leukodystrophy, Globoid Cell
Seminolipid and its precursor/degradative product, galactosylalkylacylglycerol, in the testis of saposin A- and prosaposin-deficient mice.
Leukodystrophy, Globoid Cell
Sequence, structural, functional, and phylogenetic analyses of three glycosidase families.
Leukodystrophy, Globoid Cell
Serial MRI and neurophysiological studies in late-infantile Krabbe disease.
Leukodystrophy, Globoid Cell
Significant correction of pathology in brains of twitcher mice following injection of genetically modified mouse neural progenitor cells.
Leukodystrophy, Globoid Cell
Single-dose intracerebroventricular administration of galactocerebrosidase improves survival in a mouse model of globoid cell leukodystrophy.
Leukodystrophy, Globoid Cell
Somatic cell genetic analysis of the galactocerebrosidase gene: lack of complementation in human Krabbe disease/twitcher mouse cell hybrids.
Leukodystrophy, Globoid Cell
Spacio-temporal progression of demyelination in twitcher mouse: with clinico-pathological correlation.
Leukodystrophy, Globoid Cell
Specific determination of beta-galactocerebrosidase activity via competitive inhibition of beta-galactosidase.
Leukodystrophy, Globoid Cell
Specificity of galactosylceramidase activation by phosphatidylserine.
Leukodystrophy, Globoid Cell
Spectrophotometric and fluorimetric assays of galactocerebrosidase activity, their use in the diagnosis of Krabbe's disease.
Leukodystrophy, Globoid Cell
Sphingolipid profile in the CNS of the twitcher (globoid cell leukodystrophy) mouse: a lipidomics approach.
Leukodystrophy, Globoid Cell
Stem Cell Transplantation for Adult-Onset Krabbe Disease: Report of a Case.
Leukodystrophy, Globoid Cell
Structure and organization of the human galactocerebrosidase (GALC) gene.
Leukodystrophy, Globoid Cell
Studies of a synthetic substrate in canine globoid cell leukodystrophy.
Leukodystrophy, Globoid Cell
Substrate reduction intervention by L-cycloserine in twitcher mice (globoid cell leukodystrophy) on a B6;CAST/Ei background.
Leukodystrophy, Globoid Cell
Substrate reduction therapy for Krabbe's disease.
Leukodystrophy, Globoid Cell
Substrate-reduction therapy enhances the benefits of bone marrow transplantation in young mice with globoid cell leukodystrophy.
Leukodystrophy, Globoid Cell
Suppression of galactosylceramidase (GALC) expression in the twitcher mouse model of globoid cell leukodystrophy (GLD) is caused by nonsense-mediated mRNA decay (NMD).
Leukodystrophy, Globoid Cell
Synthesis and evaluation of N-alkylated analogues of aza-galacto-fagomine - potential pharmacological chaperones for Krabbe disease.
Leukodystrophy, Globoid Cell
Thalamic and basal ganglia hyperdensities--a CT marker for globoid cell leukodystrophy?
Leukodystrophy, Globoid Cell
The Bicyclic Form of galacto-Noeurostegine Is a Potent Inhibitor of ?-Galactocerebrosidase.
Leukodystrophy, Globoid Cell
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Leukodystrophy, Globoid Cell
The galactocerebrosidase enzyme contributes to maintain a functional neurogenic niche during early post-natal CNS development.
Leukodystrophy, Globoid Cell
The galactocerebrosidase enzyme contributes to the maintenance of a functional hematopoietic stem cell niche.
Leukodystrophy, Globoid Cell
The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: Report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York.
Leukodystrophy, Globoid Cell
The nature of mutation in Krabbe disease.
Leukodystrophy, Globoid Cell
The role of AMPK in psychosine mediated effects on oligodendrocytes and astrocytes: implication for Krabbe disease.
Leukodystrophy, Globoid Cell
The Second Case of Saposin A Deficiency and Altered Autophagy.
Leukodystrophy, Globoid Cell
The sphingolipid psychosine inhibits fast axonal transport in Krabbe disease by activation of GSK3? and deregulation of molecular motors.
Leukodystrophy, Globoid Cell
The therapeutic potential of neural stem/progenitor cells in murine globoid cell leukodystrophy is conditioned by macrophage/microglia activation.
Leukodystrophy, Globoid Cell
The use of glycosides of 6- and 8-acylamino-4-methylumbelliferone in studies of the specificity and properties of human lysosomal glycolipid hydrolases.
Leukodystrophy, Globoid Cell
TNF-receptor 1 deficiency fails to alter the clinical and pathological course in mice with globoid cell leukodystrophy (twitcher mice) but affords protection following LPS challenge.
Leukodystrophy, Globoid Cell
Transduction of cultured oligodendrocytes from normal and twitcher mice by a retroviral vector containing human galactocerebrosidase (GALC) cDNA.
Leukodystrophy, Globoid Cell
Transgenic rescue of Krabbe disease in the twitcher mouse.
Leukodystrophy, Globoid Cell
Transplantation of mouse embryonic stem cell-derived oligodendrocytes in the murine model of globoid cell leukodystrophy.
Leukodystrophy, Globoid Cell
Treatment for Krabbe's disease: Finding the combination.
Leukodystrophy, Globoid Cell
Treatment of lysosomal storage disorders: cell therapy and gene therapy.
Leukodystrophy, Globoid Cell
Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel.
Leukodystrophy, Globoid Cell
Ultrastructural Characterization of the Lower Motor System in a Mouse Model of Krabbe Disease.
Leukodystrophy, Globoid Cell
Ultrastructural pathology of eccrine sweat gland epithelial cells in globoid cell leukodystrophy.
Leukodystrophy, Globoid Cell
Unfolded protein response is activated in Krabbe disease in a manner dependent on the mutation type.
Leukodystrophy, Globoid Cell
Unusual Neuroimaging in a Case of Rapidly Progressive Juvenile-Onset Krabbe Disease.
Leukodystrophy, Globoid Cell
Use of a fluorescent analogue of galactocerebroside for assay of galactocerebroside beta-galactosidase activity in skin fibroblasts from patients with Krabbe's disease.
Leukodystrophy, Globoid Cell
Zoledronate derivatives as potential inhibitors of uridine diphosphate-galactose ceramide galactosyltransferase 8: A combined molecular docking and dynamic study.
Leukodystrophy, Globoid Cell
[A study of various properties of beta-galactocerebrosidase from human chorion using synthetic fluorescent substrates]
Leukodystrophy, Globoid Cell
[An adult patient with Krabbe's disease--the first case reported in Japan]
Leukodystrophy, Globoid Cell
[From gene to disease; Krabbe disease and galactosylceramidase deficiency]
Leukodystrophy, Globoid Cell
[Identification of Krabbe disease in 2 brothers from East Germany using a new fluorogenic substrate for galactocerebrosidase]
Leukodystrophy, Globoid Cell
[Krabbe disease (globoid cell leukodystrophy)]
Leukodystrophy, Globoid Cell
[Krabbe's disease--globoid cell leukodystrophy]
Leukodystrophy, Globoid Cell
[Psychosine: a "toxin" produced in the brain--its mechanism of action]
Leukodystrophy, Metachromatic
Biochemical aspects of globoid and metachromatic leukodystrophies.
Leukodystrophy, Metachromatic
Pervasive supply of therapeutic lysosomal enzymes in the CNS of normal and Krabbe-affected non-human primates by intracerebral lentiviral gene therapy.
Leukodystrophy, Metachromatic
Research update on lysosomal disorders with special emphasis on metachromatic leukodystrophy and Krabbe disease.
Lipidoses
Thalamic and basal ganglia hyperdensities--a CT marker for globoid cell leukodystrophy?
Lysosomal Storage Diseases
CNS-targeted AAV5 gene transfer results in global dispersal of vector and prevention of morphological and function deterioration in CNS of globoid cell leukodystrophy mouse model.
Lysosomal Storage Diseases
Compound Galactosylceramidase Gene (GALC) Heterozygosity in a Boy with Infantile Krabbe Disease (KD).
Lysosomal Storage Diseases
Design of a regulated lentiviral vector for hematopoietic stem cell gene therapy of globoid cell leukodystrophy.
Lysosomal Storage Diseases
Developmental defects and aberrant accumulation of endogenous psychosine in oligodendrocytes in a murine model of Krabbe disease.
Lysosomal Storage Diseases
Donor-derived cells in the central nervous system of twitcher mice after bone marrow transplantation.
Lysosomal Storage Diseases
Galactocerebrosidase assay on dried-leukocytes impregnated in filter paper for the detection of Krabbe disease.
Lysosomal Storage Diseases
Galactocerebrosidase-deficient oligodendrocytes maintain stable central myelin by exogenous replacement of the missing enzyme in mice.
Lysosomal Storage Diseases
Innate immune activation in the pathogenesis of a murine model of globoid cell leukodystrophy.
Lysosomal Storage Diseases
Mechanism-based combination treatment dramatically increases therapeutic efficacy in murine globoid cell leukodystrophy.
Lysosomal Storage Diseases
Mitigation of cerebellar neuropathy in globoid cell leukodystrophy mice by AAV-mediated gene therapy.
Lysosomal Storage Diseases
Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones.
Lysosomal Storage Diseases
Oxidative stress as a therapeutic target in globoid cell leukodystrophy.
Lysosomal Storage Diseases
Pervasive supply of therapeutic lysosomal enzymes in the CNS of normal and Krabbe-affected non-human primates by intracerebral lentiviral gene therapy.
Lysosomal Storage Diseases
The Second Case of Saposin A Deficiency and Altered Autophagy.
Melanoma
BETA-GALACTOSYLCERAMIDASE PROMOTES MELANOMA GROWTH VIA MODULATION OF CERAMIDE METABOLISM.
Metabolic Diseases
Role of extracellular calcium and mitochondrial oxygen species in psychosine-induced oligodendrocyte cell death.
Mucolipidoses
Hydrolysis of galactosylceramide is catalyzed by two genetically distinct acid beta-galactosidases.
Multiple Sclerosis
Heterozygote galactocerebrosidase (GALC) mutants have reduced remyelination and impaired myelin debris clearance following demyelinating injury.
Myoclonus
[Two adult patients with GM1 ganglioside beta-galactosidase deficiency, showing myoclonus without radiological bony abnormalities]
Neoplasms
Implications of galactocerebrosidase and galactosylcerebroside metabolism in cancer cells.
Neoplasms
Increased activity of lysosomal glycohydrolases in glioma tissue and surrounding areas from human brain.
Nervous System Diseases
AAVrh10 gene therapy ameliorates central and peripheral nervous system disease in canine globoid cell leukodystrophy (Krabbe disease).
Nervous System Diseases
Enzyme replacement therapy results in substantial improvements in early clinical phenotype in a mouse model of globoid cell leukodystrophy.
Nervous System Diseases
Inhibition of cytokinesis by a lipid metabolite, psychosine.
Nervous System Diseases
Krabbe disease: psychosine-mediated activation of phospholipase A2 in oligodendrocyte cell death.
Nervous System Diseases
Psychosine-induced apoptosis in a mouse oligodendrocyte progenitor cell line is mediated by caspase activation.
Nervous System Diseases
The role of AMPK in psychosine mediated effects on oligodendrocytes and astrocytes: implication for Krabbe disease.
Nervous System Diseases
Unusual Neuroimaging in a Case of Rapidly Progressive Juvenile-Onset Krabbe Disease.
Neurodegenerative Diseases
A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life.
Neurodegenerative Diseases
AAV-mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy.
Neurodegenerative Diseases
An Engineered Galactosylceramidase Construct Improves AAV Gene Therapy for Krabbe Disease in Twitcher Mice.
Neurodegenerative Diseases
Bone marrow transplantation increases efficacy of central nervous system-directed enzyme replacement therapy in the murine model of globoid cell leukodystrophy.
Neurodegenerative Diseases
Cellular transplant therapies for globoid cell leukodystrophy: Preclinical and clinical observations.
Neurodegenerative Diseases
Central Nervous System-directed AAV2/5-Mediated Gene Therapy Synergizes with Bone Marrow Transplantation in the Murine Model of Globoid-cell Leukodystrophy.
Neurodegenerative Diseases
Characterization of adipose-derived stromal/stem cells from the twitcher mouse model of Krabbe disease.
Neurodegenerative Diseases
Characterization of the GALC gene in three Japanese patients with adult-onset Krabbe disease.
Neurodegenerative Diseases
Clinical management of Krabbe disease.
Neurodegenerative Diseases
Clinical, electrophysiological, and biochemical markers of peripheral and central nervous system disease in canine globoid cell leukodystrophy (Krabbe's disease).
Neurodegenerative Diseases
Diffusion tensor imaging detects axonal injury and demyelination in the spinal cord and cranial nerves of a murine model of globoid cell leukodystrophy.
Neurodegenerative Diseases
Early infantile Krabbe disease: deceptively normal magnetic resonance imaging and serial neurophysiological studies.
Neurodegenerative Diseases
Effects of treatments on inflammatory and apoptotic markers in the CNS of mice with globoid cell leukodystrophy.
Neurodegenerative Diseases
Extended Normal Life After AAVrh10-mediated Gene Therapy in the Mouse Model of Krabbe Disease.
Neurodegenerative Diseases
Fingolimod rescues demyelination in a mouse model of Krabbe's disease.
Neurodegenerative Diseases
High-throughput screening of stem cell therapy for globoid cell leukodystrophy using automated neurophenotyping of twitcher mice.
Neurodegenerative Diseases
Insights into Krabbe disease from structures of galactocerebrosidase.
Neurodegenerative Diseases
Intrathecal administration of AAV/GALC vectors in 10-11-day-old twitcher mice improves survival and is enhanced by bone marrow transplant.
Neurodegenerative Diseases
Krabbe disease successfully treated via monotherapy of intrathecal gene therapy.
Neurodegenerative Diseases
Krabbe disease: an overview.
Neurodegenerative Diseases
Long-term neurodevelopmental outcomes of hematopoietic stem cell transplantation for late-infantile Krabbe disease.
Neurodegenerative Diseases
Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report.
Neurodegenerative Diseases
Molecular defects in Krabbe disease.
Neurodegenerative Diseases
Molecular heterogeneity of Krabbe disease.
Neurodegenerative Diseases
Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants.
Neurodegenerative Diseases
Psychosine, a marker of Krabbe phenotype and treatment effect.
Neurodegenerative Diseases
Quantification of galactosylsphingosine in the twitcher mouse using electrospray ionization-tandem mass spectrometry.
Neurodegenerative Diseases
Self-association of human beta-galactocerebrosidase: Dependence on pH, salt, and surfactant.
Neurodegenerative Diseases
Treatment for Krabbe's disease: Finding the combination.
Neurodegenerative Diseases
Ultrastructural Characterization of the Lower Motor System in a Mouse Model of Krabbe Disease.
Neurodegenerative Diseases
Zoledronate derivatives as potential inhibitors of uridine diphosphate-galactose ceramide galactosyltransferase 8: A combined molecular docking and dynamic study.
Neurodegenerative Diseases
[Krabbe's disease--globoid cell leukodystrophy]
Neuroinflammatory Diseases
Hybrid Nanoparticles as a Novel Tool for Regulating Psychosine-Induced Neuroinflammation and Demyelination In Vitro and Ex vivo.
Niemann-Pick Diseases
Alpha galactosidase A activity in Parkinson's disease.
Paralysis
Effect of bone marrow transplantation on enzyme levels and clinical course in the neurologically affected twitcher mouse.
Paraplegia
Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients.
Paresis
Clinical signs and neuropathologic abnormalities in working Australian Kelpies with globoid cell leukodystrophy (Krabbe disease).
Parkinson Disease
Analysis of age-related changes in psychosine metabolism in the human brain.
Sphingolipidoses
Hematopoietic cell transplantation after administration of high-dose busulfan in murine globoid cell leukodystrophy (the twitcher mouse).
Sphingolipidoses
Hematopoietic cell transplantation in the twitcher mouse. The effects of pretransplant conditioning with graded doses of busulfan.
Sphingolipidoses
Prolonged survival and remyelination after hematopoietic cell transplantation in the twitcher mouse.
Sphingolipidoses
Sphingolipidoses in Turkey.
Synucleinopathies
Beyond Krabbe's disease: The potential contribution of galactosylceramidase deficiency to neuronal vulnerability in late-onset synucleinopathies.
Tremor
Clinical signs and neuropathologic abnormalities in working Australian Kelpies with globoid cell leukodystrophy (Krabbe disease).
Tremor
Effect of bone marrow transplantation on enzyme levels and clinical course in the neurologically affected twitcher mouse.
Vitamin D Deficiency
Effect of vitamin D3 intake on the onset of disease in a murine model of human Krabbe disease.
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3.2.1.46 galactosylceramidase
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The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable). 
