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 “"Niemann Pick disease"”.
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SYNTHESIS, CHARACTERIZATION, IN VITRO EVALUTION, AND PRECLINICAL PROFILING OF β-CYCLODEXTRIN POLYROTAXANE FAMILIES FOR USE AS POTENTIAL NIEMANN-PICK TYPE C THERAPEUTICS
Niemann-Pick Disease Type C (NPC) is a rare, autosomal recessive genetic disorder featuring a loss of proteins responsible for unesterified cholesterol (UC) trafficking through the late endosomes/lysosomes (LE/LY) of every cell of the body. Disruption of this pathway leads to abnormal accumulation …
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Physical and genetic mapping on mouse proximal chromosome 18
… near twirler (Tw) and the recently isolated Niemann-Pick type C1 (Npc1), formerly designated as spm (sphingomyelinosis), are delimited on this physical map. Mouse Niemann-Pick disease type C1 (Npc1) is an autosomal recessive lipid storage disorder. We generated a high resolution linkage map …
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Graphene Brain on a Chip Platform for the Study of Neurodegeneration
… This network is disrupted in neurodegenerative diseases---such as Parkinson's disease (PD), and there are limited tools available to study the molecular mechanisms behind the degradation of the neuronal network. This indicates a gap in the understanding of how neurodegenerative diseases and PD …
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Sterol Binding to Niemann-Pick Type C1 Disease Protein (NPC1) - Implications for its Function in Cholesterol Transport
… in animal cells remains obscure. Studies on Niemann-Pick type C disease (NPC) defined the requirement of at least two proteins involved in the transport of lipoprotein-derived cholesterol from lysosomes. Both proteins are located in the lysosomes and mutations in either NPC1, a membrane bound …
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Evaluating the Mechanisms of 2-Hydroxypropyl-β-Cyclodextrin and Liver X Receptor Agonists as Potential Therapies for Niemann-Pick Type C Disease
… cholesterol are tightly regulated. In some rare disease states, such as in Niemann-Pick Type C, cholesterol balance is lost leading to detrimental effects. In Niemann-Pick Type C, mutations in either of the cholesterol trafficking proteins, NPC1 or NPC2, lead to the entrapment of unesterified …
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Medicina genómica en el diagnóstico de enfermedades raras
… mental y una persona con la enfermedad de Niemann-Pick bajo tratamiento con un medicamento de alto costo cuyo diagnóstico fue erróneo. Todos ellos acudieron al Centro de Investigación en Genética y Genómica (CIGGUR) de la Universidad del Rosario, en donde se les ofreció diagnóstico genético …