Global ETD Search
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Showing 1 to 7 of 7 for “"Lysosomal Storage Diseases"”.
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Regulation of receptor signaling and membrane trafficking by beta1,6-branched n-glycans and caveolin-1/cholesterol membrane domain organization
… role in various pathologies such as cancer and lysosomal storage diseases. Interplay between N-glycans and other regulators, such as membrane lipid domains, in the control of signaling pathways remains poorly understood. My thesis therefore focuses on how N-glycans and membrane lipid domains …
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Examination of Abnormal Dolichol Metabolism in Infantile Batten Disease Caused by Palmitoyl Protein Thioesterase-1 (PPT1) Deficiency
… collectively as Batten disease) are a group of lysosomal storage disorders characterized by the accumulation of autofluorescent storage material in the brain. Although a number of genes underlying different forms of NCL have been cloned, the underlying mechanism for the neurodegeneration is …
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Structures and Mechanisms of Lysosomal Transporters
Lysosomal membrane transporters are indispensable for maintaining lysosomal homeostasis and proper function. Indeed, mutations in these key proteins can lead to debilitating disorders known as lysosomal storage diseases. Cystinosin and Sialin are two such transporters. Both proteins utilize the low …
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Cationic amphiphilic drug-induced autophagosome accumulation is due to autophagosome sequestration within vimentin intermediate filament networks resulting in prolonged autophagosome half-life
… <p>observed in several cell lines derived from lysosomal storage diseases,</p> <p>including Niemann Pick Type C (NPC). The relationship between</p> <p>autophagosome accumulation and lysosomal non-esterified cholesterol is</p> <p>unclear. Exposure of murine hepatoma 1c1c7 cultures to the …
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Neuropathologic characterization of a canine model of mucopolysaccharidosis IIIB and additional studies in anti-inflammatory therapy and neuroinflammatory kinetics
… (MPSs) are a heterogenous group of lysosomal storage diseases that are designated MPS I through MPS IX (excluding MPS V and MPS VIII) that result in deficiencies in specific lysosomal enzymes that are responsible for the stepwise degradation of glycosaminoglycans (GAGs). Some of …
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Ca2+ signalling between the endoplasmic reticulum and lysosomes
… Accumulating evidence indicates that lysosomal Ca2+ is important for their physiological functions. Lysosomal Ca2+ release triggers fusion during membrane trafficking and, through calmodulin, it regulates lysosome size. Luminal Ca2+ is critical for regulation of lysosomal biogenesis …
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Role of Membrane Contact Sites in the Neuropathogenesis of GM1-Gangliosidosis
… GM1-ganglisidosis is a rare neurodegenerative lysosomal storage disease caused by the deficiency of the lysosomal enzyme β-GAL, resulting in the accumulation of its target substrate GM1. GM1, a glycosphingolipid found primarily in the PM of neurons, is known to modulate Ca2+ flux through its …