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Disease on EC 3.2.1.46 - galactosylceramidase

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