Global ETD Search
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Showing 1 to 18 of 18 for “"mucopolysaccharidosis"”.
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Molecular therapy for mucopolysaccharidosis Type I
Mucopolysaccharidosis type I (MPS I) is caused by deficiency of the lysosomal hydrolase alpha-L-iduronidase (IDUA). IDUA is a required component of the step-wise degradative pathway responsible for the catabolism of the glycosaminoglycans (GAGs) heparan sulfate and dermatan sulfate. As a result, …
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Structural and Metabolic Studies of Glycosaminoglycans (Sulfatase, Hydrazine, Mucopolysaccharidosis)
A method for chemical cleavage of glycosaminoglycans (GAGs) at N-acetylhexosamine residues was developed. The reaction scheme involved N-deacetylation of the N-acetylhexosamine residues with hydrazine (N(,2)H(,4)) followed by nitrous acid (HONO) cleavage of the polymer at pH 4.0. Initial studies …
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ADVANCED AAV-MEDIATED LIVER-DIRECTED GENE THERAPIES FOR HAEMOPHILIA A AND MUCOPOLYSACCHARIDOSIS TYPE VI
… AAV-HITI efficacy, in mouse models of HemA and Mucopolysaccharidosis type VI (MPS VI), a lysosomal storage disorder, achieving stable therapeutic levels of systemic proteins even at low AAV doses. Importantly, I performed comprehensive molecular analyses to characterize the AAV-HITI outcomes …
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Neuropathologic characterization of a canine model of mucopolysaccharidosis IIIB and additional studies in anti-inflammatory therapy and neuroinflammatory kinetics
… (HS) and secondary accumulation of gangliosides. Mucopolysaccharidosis III (MPS III, Sanfilippo Syndrome Type III) is characterized by 4 subtypes in humans (A-D), and fifth subtype in mice (E). MPS IIIB results from a deficiency in ?-N-acetylglucosamindase (Naglu) activity which results in primary …
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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 …
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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
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disorder that is characterised 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. …
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Síndrome de morquio : uma revisão bibliográfica
Mucopolysaccharidosis are a group of rare disease prevalence, characterized 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 …
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Advances in functional magnetic resonance imaging to facilitate brain research
… an inherited genetic lysosomal disorder named mucopolysaccharidosis type I (MPS I).
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Characterization Of The Skeletal Phenotype In Idua-W392X Knock-In Mice: Bone Metabolism Biomarkers
Mucopolysaccharidosis 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 …
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Engineering cell-based micropharmacies for in vivo protein replacement therapy
… micropharmacies for enzyme replacement in Mucopolysaccharidosis type I (MPS I), a lysosomal storage disorder resulting from a deficiency in alpha-L-iduronidase (IDUA). Current treatments, including ERT and hematopoietic stem cell transplantation (HSCT) have improved patient outcomes but …
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MODIFYING CHONDROITIN SULFATION ENHANCES RETINAL GANGLION CELL AXON REGENERATION
… for replacement therapy in patients with mucopolysaccharidosis VI and therefore represents an attractive candidate for translation to the human CNS. My findings illustrate the importance of CSPGs as a barrier to axon extension following injury, and show compelling evidence that selective …
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Analysis of Macrophage-‐Derived Inflammatory Response in the Presence of Glycosaminoglycans: A Possible Clue on the Role of Inflammation in the Pathogenesis of Morquio A
… enzymes required to degrade glycosaminoglycans. Mucopolysaccharidosis IVA (MPS IVA or Morquio A syndrome) is characterized by the functional loss of the enzyme N-‐acetylgalactosamine-‐6-‐ sulfatase (GALNS). The absence of GALNS leads to the chronic accumulation of the glycosaminoglycans …
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Development of Quantitative Tools for the Characterization and Analysis of the Blood Brain Barrier in Normal and MPS IIIB Mice
… certain diseases such as the metabolic disease Mucopolysaccharidosis IIIB, have been shown to cause breaches in the BBB’s integrity, thus suggesting a possible mechanism to administer treatment around this restriction could be to utilize a specific disease’s own pathology. In order to understand …
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Development of a Cellular Model for Morquio A Syndrome
<p>Mucopolysaccharidosis IVA (MPS IVA; Morquio A), is a lysosomal storage disorder characterized by the deficiency of N-acetylgalactosamine-6-sulfatase (GALNS), resulting in the accumulation of glycosaminoglycans (GAGs) such as keratan sulfate (KS) (Northover et al., 1996) and …
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Synaptic morphology, function, and regulation in a paediatric-onset neurodegenerative disorder
… lysosomal protein. The most common sub-group is mucopolysaccharidosis (MPS) III (collectively 1 in 70,000). In Australia, MPS IIIA is the most common sub-type and the focus of this study. MPS IIIA is caused by an autosomal recessive mutation in the sulphamidase gene, leading to accumulation of …
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Improving CNS Delivery of Genistein for the Treatment of Sanfilippo Syndrome
Statement of the Problem: Sanfilippo syndrome or mucopolysaccharidosis 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 …
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Genetic studies in Sanfilippo syndrome, type B
This document only includes an excerpt of the corresponding thesis or dissertation. To request a digital scan of the full text, please contact the Ruth Lilly Medical Library's Interlibrary Loan Department (rlmlill@iu.edu).
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Experiencia anestésica de los pacientes con mucopolisacaridosis llevados a cirugía en la Fundación Cardioinfantil
La Mucopolisacaridosis (MPS) es una enfermedad genética que altera la morfología de los tejidos generando alteraciones funcionales y anatómicas. Esto explica que representen un grupo poblacional con alto riesgo de dificultades en la vía aérea dadas las deformidades en tejidos blandos así como un …