Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 6 of 6 for “"GALC"”.
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The role of GPR65 and GALC in Multiple Sclerosis: Establishing the functional consequences of an MS associated variant on chromosome 14q31.3
… the lysosomal enzyme galactosylceramidase (GALC) and acid sensing surface receptor G-protein coupled receptor 65 (GPR65). In my thesis I attempted to validate and replicate this finding, and also to explore the possibility of other pH dependent effects of this SNP. In order to undertake this …
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MENINGES AS AN OVERLOOKED TARGET FOR GLOBOID CELL LEUKODISTROPHY
… by the deficiency of galactocerebrosidase (GALC) enzyme, leading to the accumulation of toxic metabolites and ultimately resulting in progressive demyelination and neurodegeneration. The only treatment option currently available is the hematopoietic stem/progenitor cell transplant (HSPC-T), …
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Protein-sphingolipid interactions and their role in immunity and disease
… function of the lysosomal sphingolipid hydrolase GALC, is accompanied by immune defects possibly driven by phagocytic cell dysfunction. I investigated how GALC deficiency alters the phenotype and function of the phagocytic cell line THP-1. This study was compromised by substantial off-target …
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Molecular Mechanisms Involved In Krabbe's Disease
… gene codificante per galactosilcerebrosidase (GALC). GALC è coinvolto nel catabolismo di due lipidi molto prodotti nel processo di formazione della guaina mielinica: galactosilceramide e psicosina. A differenza delle classiche lipidosi, galactosilceramide non si accumula nel cervello di …
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The Role of Specific Integrase Strand Transfer Inhibitors (INSTIs) in the Alteration of Oligodendrocyte Maturation and Myelination in Hand
… oligodendrocyte marker galactosylceramide (GalC) and mature oligodendrocyte marker myelin basic protein (MBP) in vitro, as well as the synthesis of myelin proteins. However, neither EVG or RAL induced cell loss or apoptosis, as determined by cell counts and TUNEL assays, suggesting that EVG …
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The Role Of Inflammation In Pathogenesis And Treatment Of Globoid-Cell Leukodystrophy
… of the lysosomal enzyme galactosylceramidase: GALC). It results in altered catabolism of the myelin lipid Galactosylceramide. The disease predominantly affects the white matter of the CNS and the myelin sheath of the peripheral nerves. The infantile form of the disease is characterized by early …