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.
Results
Showing 1 to 10 of 10 for “"Lysosomal Storage Disease"”.
-
MOLECULAR TROJAN HORSES IN THE TREATMENT OF METACHROMATIC LEUKODYSTROPHY
Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by a mutation in the enzyme, arylsulfatase A (ASA) and is characterized by progressive and fatal demyelination in the central and peripheral nervous systems. To date, no effective treatment exists and development is hampered …
-
New tools for the discovery of pigment gene function
… 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.
-
Characterization Of The Skeletal Phenotype In Idua-W392X Knock-In Mice: Bone Metabolism Biomarkers
… Type I (MPS I, Hurlers Syndrome) is a lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDUA). IDUA catalyzes the degradation of the two glycosaminoglycans (GAGs); heparin sulfate (HS) and demantan sulfate (DS). The accumulation of HS and DS makes MPS I …
-
Evaluation of Seizure Threshold as an Early Behavioral Marker of Disease Progression in the Mouse Model of Mucopolysaccharidosis IIIA
<p>Mucopolysaccharidosis IIIA (MPS IIIA) is a lysosomal storage disease caused by a mutation in the gene that codes for the enzyme heparan sulfamidase. The decreased enzyme activity of heparan sulfamidase results in the accumulation of heparan sulfate (HS). HS accumulation in the brain causes …
-
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 …
-
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 …
-
Improving CNS Delivery of Genistein for the Treatment of Sanfilippo Syndrome
… type III (MPS III), a type of lysosomal storage disease, is a rare genetic disorder inherited in an autosomal recessive manner. Individuals affected by this disease lack the ability to produce one of the four enzymes responsible for the lysosomal degradation of heparan sulfate …
-
Characterization of a Novel NPC1I1061T Knock-in Mouse Model of Niemann-Pick Type C1 Disease
<p>Niemann-Pick Type C (NPC) disease is a fatal pediatric cholesterol storage disease that is caused by mutations in either the <italic>npc1</italic> or <italic>npc2</italic> genes. Loss of function of either gene results in toxic storage of free cholesterol in the lysosomes due to a cholesterol …
-
Immunomodulatory Roles of the Lysosomal Sialidase Neuraminidase 1
… of NEU1 leads to a pediatric neurodegenerative lysosomal storage disease known as sialidosis. In sialidosis, loss of NEU1 disrupts lysosomal catabolism, leading to accumulation of unprocessed substrates that drive pathogenesis by impinging on basic cellular processes, one of which is …
-
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 …