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 17 of 17 for “"Enzyme replacement"”.
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Efficacy of enzyme replacement therapy in α-manosidosis mice
… es, zu analysieren, welche Wirkungskraft eine Enzyme-Ersatz-Therapie Enzyme Replacement Therapy (ERT) hat. Dies wurde an Hand von Experimenten mit LAMAN verschiedener Spezies (Rinder-LAMAN, rekombinante, humane LAMAN sowie rekombinante, Maus-LAMAN) in einem Alpha-Mannosidose Maus Modell …
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Potential Modifications to Enzyme Replacement Therapy in Anderson-Fabry Disease
… in the GLA gene that encodes the lysosomal enzyme α-galactosidase A (αGal) result in the sphingolipidoses named Fabry disease. This enzymatic defect is inherited as an X-linked recessive disorder and is associated with a progressive deposition of glycosphingolipids, including …
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Engineering cell-based micropharmacies for in vivo protein replacement therapy
… However, conventional methods, such as enzyme replacement therapy (ERT) and cancer immunotherapies, often require frequent infusions, suffer from limited tissue distribution, or pose a significant burden to patients and caretakers. To overcome these limitations, cell-based …
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Síndrome de morquio : uma revisão bibliográfica
… in that there is deficiency in the production of enzymes involved in the metabolic degradation of glycosaminoglycans lysosomal level. The accumulation of these intracellular substances causes various clinical manifestation s. The increase in intracellular glycosaminoglycan, caused by deficiency of …
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No Difference In Health Related Quality of Life Between Therapeutic Options For Type 1 Gaucher Disease
… treatment for GD was limited to intravenous enzyme replacement therapy (ERT). ERT reduces symptoms and increases healthrelated quality of life (HRQoL) in people with this condition. In 2014, oral substrate reduction therapy (SRT) was approved for type 1 GD treatment. Although both therapies …
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Non-invasive assessment of gastrointestinal function using breath test technology : investigations in health and disease.
… in pancreatic lipase activity with pancreatic enzyme replacement is inversely related to the gastric emptying time. Breath testing was also used to show that substrates with a natural ¹³C-enrichment can be used to assess small intestinal enzyme activity. Breath testing is a sensitive and …
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Molecular therapy for mucopolysaccharidosis Type I
… intravenous administration of recombinant enzyme upon diagnosis followed by hematopoeitic stem cell transplantation (HSCT) once a proper donor cell source is identified. Following HSCT, many patients exhibit a reduced rate of neurological deterioration. However, the potential of HSCT to …
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Molecular Characterization of pFGE, the Paralog of the C-α-Formylglycine-generating Enzyme
… identifiziert und formylglycine-generating enzyme (FGE) genannt. Genetische Defekte des FGE-Gens (sulfatase-modifying factor-1 gene, SUMF-1) führen zur Multiplen Sulfatasedefizienz (MSD), einer lysosomalen Speicherkrankheit, bei der die Aktivität aller Sulfatasen reduziert ist oder komplett …
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Alpha-L-iduronidase transduced mesenchymal stem cells as a therapy for the treatment of CNS degeneration in mucopolysaccharidosis type I mice
… by a deficiency in the α-L-iduronidase (IDUA) enzyme, resulting in the accumulation of undegraded heparan sulphate and dermatan sulphate glycosaminoglycans (gags) within the lysosome of nearly every cell. MPS I is a multi-tissue and organ disease, presenting with profound mental retardation and …
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Cystic fibrosis in children and adolescents in the Western Cape : epidemiological and clinical aspects
… treatments. Treatment of CF with pancreatic enzyme replacement therapy and antibiotics in the 1950s proved successful in controlling some of the severe and often fatal aspects of the disease. Further refinements to nutritional and antimicrobial therapies in the 1970s and 1980s produced rapid …
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3D KIDNEY ORGANOIDS AS A PLATFORM FOR INVESTIGATING MONOGENIC DISEASES AND GENE THERAPY APPROACHES
… useful for validating therapies such as Enzyme Replacement Therapy (ERT) and Substrate Reduction Therapy (SRT) for Fabry disease and pharmacological therapy for Lowe syndrome. However, despite being widely adopted in clinics, these therapies have proven to be only partially effective, …
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Neuropathologic characterization of a canine model of mucopolysaccharidosis IIIB and additional studies in anti-inflammatory therapy and neuroinflammatory kinetics
… result in deficiencies in specific lysosomal enzymes that are responsible for the stepwise degradation of glycosaminoglycans (GAGs). Some of these MPSs demonstrate neuropathic presentations, which includes MPS I, II, III, and VII. The neuropathic forms of MPS are characterized by primary …
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Role of Membrane Contact Sites in the Neuropathogenesis of GM1-Gangliosidosis
… 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 interactions with Ca2+ channels and Ca2+ binding proteins. GM1 is also …
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Mammalian Cell Line Development Platform for Recombinant Protein Production: Expanding the Protein Expression Toolbox for Research and Drug Discovery Applications
… recombinant cell line stability. A lysosomal enzyme therapeutic candidate is expressed in the SP2/0 cells as a proof-of-concept for developing this protein expression platform. To this end, we have shown that SP2/0 cells can be grown to a high density in commercially available serum-free media …
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Reengineering a human-like uricase for the treatment of gout
… arthritis can be efficiently alleviated by the enzyme uricase. This enzyme breaks down uric acid, the causative agent of gout, so it can be flushed from the body. In humans and the other great apes, uricase is a pseudogene and as such is inactive. Research on therapeutic uricases has focused on …
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Zellbiologische Untersuchung α-Mannosidase-defizienter und Enzym-behandelter Mäuse
Die Defizienz der lysosomalen α-Mannosidase führt zu der lysosomalen Speichererkrankung α-Mannosidose. Ein möglicher Therapieansatz zur Behandlung der Erkrankung bietet die Substitution des Enzyms durch die intravenöse Injektion rekombinanten Enzyms. Ziel der Arbeit war es, sekundäre Folgen der …