Add to ORKGThesis (Doctoral)--Izmir Institute of Technology, Molecular Biology and Genetics, Izmir, 2019Includes bibliographical references (leaves: 92-99)Text in English; Abstract: Turkish and EnglishTay-Sachs disease is a severe lysosomal storage disorder characterized by mutations in the lysosomal β-Hexosaminidase A (HEXA) enzyme which converts GM2 to GM3 ganglioside. The GM2 ganglioside accumulation is observed predominantly in the neurons. The infants appear normal in their inborn time, but the progressive accumulation of undegraded GM2 results with death. Hexa-/- mice were created. However, they have a normal lifespan with no obvious neurological impairment until one year. It was thought that stored GM2 catabolized to GA2 using sialidase(s), whi...