Global ETD Search
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Showing 1 to 4 of 4 for “"Sandhoff Disease"”.
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Preclinical Assessment of Intravenous Gene Therapy for GM2 Gangliosidosis
… in either of these genes lead to Tay Sachs Disease and Sandhoff Disease, respectively, through the disruption of the HexA enzyme. These debilitating diseases are fatal by the age of 4 in the infantile version and have no effective treatment available to patients other than palliative care. …
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Partial Molecular and Biochemical Characterization of a Sandhoff Mouse Model
Sandhoff Disease (SD) is a rare genetic disorder which results in progressive neurodegeneration. SD is caused by a build-up of GM2 Gangliosides, a lipid which is stored in the lysosome of neurons. It can occur in infantile, juvenile and adult forms; in the severe, infantile form, death occurs by …
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Phenotypic characterisation of human iPSC neuronal models of GM2 gangliosidoses
… (LSD). The GM2 gangliosidoses Tay-Sachs and Sandhoff disease are a type of LSD, resulting from the inability of the lysosome to catabolise the breakdown of the ganglioside GM2. This is due to a loss or mutation of either the HEXA or HEXB genes which form the two subunits of the heterodimeric …
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Medicina genómica en el diagnóstico de enfermedades raras
En este trabajo de investigación se analizan tres casos clínicos de condiciones raras: una enfermedad de olor inusual con gran afectación en el relacionamiento social de la persona afectada, una familia con neurodegeneración por depósito de hierro en la que se identificó un fenotipo oculto de …