Premium
High‐resolution loading tests in the study of genetic heterogeneity in gangliosidosis fibroblasts
Author(s) -
Akhunov V. S.,
Mirenburg T. V.,
Krasnopolskaya X. D.
Publication year - 1994
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00735405
Subject(s) - gangliosidosis , tay sachs disease , enzyme , chemistry , biochemistry , high resolution , hydrolysis , microbiology and biotechnology , chromatography , biology , medicine , remote sensing , disease , geology
Summary GM 1 ‐ and GM 2 ‐gangliosides were isolated from brain and radio‐labelled. 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 GM 1 ‐ and GM 2 ‐gangliosidoses as well as the identification of B, O and AB types of GM 2 ‐gangliosidosis.