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High-resolution loading tests in the study of genetic heterogeneity in gangliosidosis fibroblasts
V S Akhunov1, T V Mirenburg, X D Krasnopolskaya
1Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow.
Journal of Inherited Metabolic Disease
|January 1, 1994
Abstract:
GM1- and GM2-gangliosides were isolated from brain and radiolabelled. The labelled moieties were localized by hydrolysis with lysosomal enzymes, followed by thin-layer chromatography of the products. High-resolution loading tests with labelled gangliosides were developed and found to differentiate infantile and juvenile forms of GM1- and GM2-gangliosidoses as well as the identification of B, O and AB types of GM2-gangliosidosis.