Global ETD Search
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Showing 1 to 10 of 10 for “"Cystinosis"”.
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Using human induced pluripotent stem cells to model cystinosis
Cystinosis is a rare lysosomal storage disease caused by mutations in the CYSTINOSIN (CTNS) gene, encoding a cystine transporter located on the lysosomal membrane. Cystinosis leads to an accumulation of cystine within lysosomes in most cells of the body, however the kidney is the main organ …
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Formulation studies on cysteamine for the treatment of nephropathic cystinosis.
Nephropathic cystinosis is a rare autosomal recessive disease characterised by raised lysosomal levels of cystine in the cells of almost all organs. It is treated by regular oral and topical administration of the aminothiol, cysteamine (Cystagon TM), which possesses an offensive taste and smell. …
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The design and synthesis of novel pro-drugs for the treatment of nephropathic cystinosis.
Cystinosis is a metabolic disorder characterised by the abnormal accumulation of the amino acid cystine in cells leading to a slow destruction of all major organs. If patients diagnosed with cystinosis are untreated, death due to kidney failure ensues in the second decade of life. A number of …
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Characterisation of cysteamine prodrugs for the treatment of cystinosis and evaluation of liquid fill technology.
Cystinosis is a rare, autosomal, recessive disease characterised by raised levels of the amino acid cystine in the cells of most organs in the body which can cause organ damage. The treatment involves the oral administration of the aminothiol, cysteamine (Cystagon(TM)), but this has an offensive …
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Development and evaluation of oral solid dosage forms for colonic delivery of drugs for the treatment of cystinosis.
… formulations, used in the treatment of cystinosis, are observed to cause gastrointestinal mucosa irritation, which leads to nausea, vomiting and ulceration in affected patients. Spheronised pellets were prepared, varying the type and concentration of the polymer used as an extrusion aid …
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Structures and Mechanisms of Lysosomal Transporters
… disorders. Mutations in Cystinosin cause Cystinosis, a neurodegenerative disorder that occurs when Cystinosin's substrate, the dimeric form of cysteine called cystine, builds up in the lysosome. While there currently is a treatment for this disorder, how mutations disrupt this transport …
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New tools for the discovery of pigment gene function
… in lysosomes of fibroblasts from patients with cystinosis, a lysosomal storage disease caused by inactivation of the lysosomal cystine exporter CTNS (Cystinosin). Thus, MFSD12 is an essential component of the long-sought cysteine importer for melanosomes and lysosomes.
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Exploring the network’s world: From omics-driven machine learning workflow for drug target identification to quantification of signaling model diversity.
… is presented for identifying drug targets for cystinosis, a rare disease that causes progressive kidney disease, currently lacking effective therapies to prevent the kidney failure. This approach permits to recapitulate the disease mechanisms in the context of renal tubular physiology and …
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3D KIDNEY ORGANOIDS AS A PLATFORM FOR INVESTIGATING MONOGENIC DISEASES AND GENE THERAPY APPROACHES
… such as Lowe syndrome, Fabry disease, and Cystinosis. These were characterised at the morphological and functional level, displaying pathology-relevant phenotypes useful for validating therapies such as Enzyme Replacement Therapy (ERT) and Substrate Reduction Therapy (SRT) for Fabry disease …