Synopsis: gangliosidoses.
Gangliosidoses are very rare neurological diseases based on specific enzyme defects. They constitute models for the disruption of specific metabolic pathways and cellular functions with the ultimate consequence of manifest clinical symptoms. The investigation of the various steps involved in the generation of a given syndrome can therefore lead to a more profound understanding of the cell biology of the nervous system. In the present synopsis we try to briefly summarize some aspects of the present knowledge of pathophysiological mechanisms in GM1- and GM2-gangliosidoses.
D001921:Brain / Q000201:enzymology; D002648:Child; D005677:G(M1) Ganglioside / Q000378:metabolism*; D049289:G(M2) Activator Protein; D005678:G(M2) Ganglioside / Q000378:metabolism*; D005732:Gangliosides / Q000378:metabolism*; D005733:Gangliosidoses / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D006023:Glycoproteins; D006596:Hexosaminidases / Q000172:deficiency; D006801:Humans; D008247:Lysosomes / Q000201:enzymology; D009410:Nerve Degeneration; D011488:Protein Deficiency; D011506:Proteins; D049231:Saposins; D049128:Sphingolipid Activator Proteins; D009435:Synaptic Transmission; D001616:beta-Galactosidase / Q000172:deficiency; D001619:beta-N-Acetylhexosaminidases
D049289:G(M2) Activator Protein; D005732:Gangliosides; D006023:Glycoproteins; C483345:PSAP protein, human; D011506:Proteins; D049231:Saposins; D049128:Sphingolipid Activator Proteins; D005678:G(M2) Ganglioside; D005677:G(M1) Ganglioside; D006596:Hexosaminidases; C021502:acid beta-galactosidase; D001616:beta-Galactosidase; D001619:beta-N-Acetylhexosaminidases