Globoid cell leucodystrophy (Krabbe's disease): deficiency of galactocerebroside beta-galactosidase.
about
Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperonesRegulation of lysosomal ion homeostasis by channels and transportersLysosomal Re-acidification Prevents Lysosphingolipid-Induced Lysosomal Impairment and Cellular ToxicityKrabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.In Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.Krabbe's globoid cell leucodystrophy. Studies on galactosylceramide beta-galactosidase and non-specific beta-galactosidase of leucocytes, cultured skin fibroblasts, and amniotic fluid cellsDiffusion tensor imaging detects axonal injury and demyelination in the spinal cord and cranial nerves of a murine model of globoid cell leukodystrophy.Galactocerebrosidase-deficient oligodendrocytes maintain stable central myelin by exogenous replacement of the missing enzyme in miceGloboid cell leucodystrophy in polled Dorset sheep.A high-throughput screening assay using Krabbe disease patient cells.Globoid cell leukodystrophy (Krabbe's disease): update.Characterization of adipose-derived stromal/stem cells from the Twitcher mouse model of Krabbe disease.Macrophages counteract demyelination in a mouse model of globoid cell leukodystrophyGalactocerebrosidase deficiency in globoid cell leucodystrophy of late onset.Krabbe disease locus mapped to chromosome 14 by genetic linkage.The nature of mutation in Krabbe diseaseSneak peak at galactocerebrosidase, Krabbe disease's lysosomal hydrolaseThe genetic mismanagement of complex lipid metabolism.Transplantation of mouse embryonic stem cell-derived oligodendrocytes in the murine model of globoid cell leukodystrophy.Globoid cell (Krabbe's) leukodystrophy: heterozygote detection in cultured skin fibroblastsNeural stem cell gene therapy ameliorates pathology and function in a mouse model of globoid cell leukodystrophy.The twitcher mouse. A model of human globoid cell leukodystrophy (krabbe's disease)Inborn errors of metabolism: principles and their applications.Krabbe's disease: globoid cell leukodystrophy.The structural and functional role of myelin fast-migrating cerebrosides: pathological importance in multiple sclerosis.The morphologic similarities of human and canine globoid leukodystrophy. Thin section and freeze-fracture studies.Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease.Mesenchymal lineage stem cells have pronounced anti-inflammatory effects in the twitcher mouse model of Krabbe's diseaseBone marrow transplantation increases efficacy of central nervous system-directed enzyme replacement therapy in the murine model of globoid cell leukodystrophyHigh-throughput screening of stem cell therapy for globoid cell leukodystrophy using automated neurophenotyping of twitcher mice.Sphingolipids and membrane biology as determined from genetic models.Oxidative stress parameters of Gaucher disease type I patients.Late onset Krabbe's leukodystrophy: a report of four cases.Antenatal diagnosis of Krabbe's leucodystrophy: enzymatic and morphological confirmation in an affected fetus.Inhibition of angiogenesis by β-galactosylceramidase deficiency in globoid cell leukodystrophy.Multipotent stromal cells alleviate inflammation, neuropathology, and symptoms associated with globoid cell leukodystrophy in the twitcher mouse.MMP-3 mediates psychosine-induced globoid cell formation: implications for leukodystrophy pathologyDirect visualization of the lateral structure of porcine brain cerebrosides/POPC mixtures in presence and absence of cholesterol.A microglial hypothesis of globoid cell leukodystrophy pathology.Quantum dots and potential therapy for Krabbe's disease
P2860
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P2860
Globoid cell leucodystrophy (Krabbe's disease): deficiency of galactocerebroside beta-galactosidase.
description
1970 nî lūn-bûn
@nan
1970 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1970 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1970年の論文
@ja
1970年論文
@yue
1970年論文
@zh-hant
1970年論文
@zh-hk
1970年論文
@zh-mo
1970年論文
@zh-tw
1970年论文
@wuu
name
Globoid cell leucodystrophy (K ...... erebroside beta-galactosidase.
@ast
Globoid cell leucodystrophy (K ...... erebroside beta-galactosidase.
@en
type
label
Globoid cell leucodystrophy (K ...... erebroside beta-galactosidase.
@ast
Globoid cell leucodystrophy (K ...... erebroside beta-galactosidase.
@en
prefLabel
Globoid cell leucodystrophy (K ...... erebroside beta-galactosidase.
@ast
Globoid cell leucodystrophy (K ...... erebroside beta-galactosidase.
@en
P2860
P356
P1476
Globoid cell leucodystrophy (K ...... erebroside beta-galactosidase.
@en
P2093
P2860
P304
P356
10.1073/PNAS.66.2.302
P407
P577
1970-06-01T00:00:00Z