Krabbe disease: genetic aspects and progress toward therapy
about
Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperonesInsights into Krabbe disease from structures of galactocerebrosidaseStructure of saposin A lipoprotein discsNew therapeutic approaches for Krabbe disease: The potential of pharmacological chaperonesDefective adult oligodendrocyte and Schwann cell development, pigment pattern, and craniofacial morphology in puma mutant zebrafish having an alpha tubulin mutation.Therapeutic benefit of lentiviral-mediated neonatal intracerebral gene therapy in a mouse model of globoid cell leukodystrophyMulti-system disorders of glycosphingolipid and ganglioside metabolismGALC deletions increase the risk of primary open-angle glaucoma: the role of Mendelian variants in complex diseaseAberrant production of tenascin-C in globoid cell leukodystrophy alters psychosine-induced microglial functionsResearch challenges in central nervous system manifestations of inborn errors of metabolismCharacterization of adipose-derived stromal/stem cells from the Twitcher mouse model of Krabbe disease.Mechanism of neuromuscular dysfunction in Krabbe disease.Regional differences in fiber tractography predict neurodevelopmental outcomes in neonates with infantile Krabbe disease.Peripheral neuropathy in the Twitcher mouse involves the activation of axonal caspase 3.Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report.Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease.Mesenchymal lineage stem cells have pronounced anti-inflammatory effects in the twitcher mouse model of Krabbe's diseaseUmbilical cord blood-derived stem cells and brain repair.Krabbe Disease in the Arab World.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.A microglial hypothesis of globoid cell leukodystrophy pathology.Cellular transplant therapies for globoid cell leukodystrophy: Preclinical and clinical observationsThe potential of stem cells for the treatment of brain tumors and globoid cell leukodystrophy.Weighing the evidence for newborn screening for early-infantile Krabbe disease.Myelin lesions associated with lysosomal and peroxisomal disorders.Newborn screening for lysosomal storage disorders.Molecular genetics in glaucoma.Expanding newborn screening for lysosomal disorders: opportunities and challenges.Heterozygote galactocerebrosidase (GALC) mutants have reduced remyelination and impaired myelin debris clearance following demyelinating injury.Endothelial cell dysfunction in globoid cell leukodystrophy.Inherited and acquired disorders of myelin: The underlying myelin pathology.Genetic Leukoencephalopathies in Adults.Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants.Biochemical, cell biological, pathological, and therapeutic aspects of Krabbe's disease.Substrate reduction therapy for Krabbe's disease.Perspective on innovative therapies for globoid cell leukodystrophy.Endoplasmic Reticulum Protein Quality Control Failure in Myelin Disorders.Major review: Molecular genetics of primary open-angle glaucoma.Psychosine induces the dephosphorylation of neurofilaments by deregulation of PP1 and PP2A phosphatases.
P2860
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P2860
Krabbe disease: genetic aspects and progress toward therapy
description
2000 nî lūn-bûn
@nan
2000 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Krabbe disease: genetic aspects and progress toward therapy
@ast
Krabbe disease: genetic aspects and progress toward therapy
@en
Krabbe disease: genetic aspects and progress toward therapy
@nl
type
label
Krabbe disease: genetic aspects and progress toward therapy
@ast
Krabbe disease: genetic aspects and progress toward therapy
@en
Krabbe disease: genetic aspects and progress toward therapy
@nl
prefLabel
Krabbe disease: genetic aspects and progress toward therapy
@ast
Krabbe disease: genetic aspects and progress toward therapy
@en
Krabbe disease: genetic aspects and progress toward therapy
@nl
P2093
P3181
P356
P1476
Krabbe disease: genetic aspects and progress toward therapy
@en
P2093
D A Wenger
E Costantino-Ceccarini
P3181
P356
10.1006/MGME.2000.2990
P407
P577
2000-05-01T00:00:00Z