title: Enzyme-linked immunosorbent assay for the ganglioside GM2-activator protein. Screening of normal human tissues and body fluids, of tissues of GM2 gangliosidosis, and for its subcellular localization.
abstract: An enzyme-linked immunosorbent assay was developed for the quantitation of the human activator protein for ganglioside GM2 degradation by beta-N-acetyl-D-hexosaminidase A. With this assay, various tissues and body fluids of normal subjects and of patients with variant forms of GM2 gangliosidosis were screened for their GM2-activator content. The highest content of this protein was found in kidney. Tissues from patients with variant AB of infantile GM2 gangliosidosis contained only low levels (up to 5% of that of normal controls) of cross-reacting material. On subcellular fractionation of normal human skin fibroblasts, the activator was found to co-distribute with the lysosomal marker enzyme beta-hexosaminidase.
mesh_terms: D001826:Body Fluids / Q000032:analysis; D002478:Cells, Cultured; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D005347:Fibroblasts / Q000032:analysis; D049289:G(M2) Activator Protein; D005678:G(M2) Ganglioside / Q000032:analysis*; D005732:Gangliosides / Q000032:analysis*; D006801:Humans; D007223:Infant; D009081:Mucolipidoses / Q000378:metabolism; D011247:Pregnancy; D011506:Proteins / Q000032:analysis*; D012016:Reference Values; D012867:Skin / Q000032:analysis; D013661:Tay-Sachs Disease / Q000378:metabolism*; D014018:Tissue Distribution
chemical_list: D049289:G(M2) Activator Protein; D005732:Gangliosides; D011506:Proteins; D005678:G(M2) Ganglioside