title: High-resolution loading tests in the study of genetic heterogeneity in gangliosidosis fibroblasts.
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.
authors.affiliation: Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow.
authors.forename: V S
authors.initials: VS
authors.lastname: Akhunov
authors.forename: T V
authors.initials: TV
authors.lastname: Mirenburg
authors.forename: X D
authors.initials: XD
authors.lastname: Krasnopolskaya
mesh_terms: D000818:Animals; D001923:Brain Chemistry; D002855:Chromatography, Thin Layer; D003937:Diagnosis, Differential; D005347:Fibroblasts / Q000378:metabolism; D005677:G(M1) Ganglioside / Q000378:metabolism; D005678:G(M2) Ganglioside / Q000378:metabolism; D005733:Gangliosidoses / Q000175:diagnosis / Q000235:genetics*; D016537:Gangliosidosis, GM1 / Q000175:diagnosis / Q000235:genetics; D014644:Genetic Variation; D006801:Humans; D007700:Kinetics; D051379:Mice; D012497:Sandhoff Disease / Q000175:diagnosis / Q000235:genetics; D013661:Tay-Sachs Disease / Q000175:diagnosis / Q000235:genetics
chemical_list: D005678:G(M2) Ganglioside; D005677:G(M1) Ganglioside