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Neuropediatrics, ISSN 0174-304X, 04/2017, Volume 48, Issue 2, pp. 127 - 130
Abstract GM2 gangliosidosis, AB variant, is a very rare form of GM2 gangliosidosis due to a deficiency of GM2 activator protein. We report on two patients with... 
Short Communication | GM2 gangliosidosis | activator protein | sphingolipidoses | Tay-Sachs' disease | GM2-GANGLIOSIDOSIS | SPECTROSCOPY | MRI | PEDIATRICS | CLINICAL NEUROLOGY
Journal Article
PLOS NEGLECTED TROPICAL DISEASES, ISSN 1935-2735, 07/2019, Volume 13, Issue 7, p. e0007591
Journal Article
International Journal of Epilepsy, ISSN 2213-6320, 12/2017, Volume 4, Issue 2, pp. 184 - 187
Abstract GM2 Gangliosidoses are a group of autosomal recessive genetic disorders caused by intra-lysosomal deposition of ganglioside GM2 mainly in the neuronal... 
Case report | GM2-Activator protein | Tay-Sachs disease | Cherry red spots | GM2A | GM2 Gangliosidoses
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2013, Volume 8, Issue 3, p. e57908
Journal Article
Journal Article
ACTA NEUROPATHOLOGICA, ISSN 0001-6322, 11/2005, Volume 110, Issue 5, pp. 443 - 450
Journal Article
FEBS Journal, ISSN 1742-464X, 03/2006, Volume 273, Issue 5, pp. 982 - 991
Journal Article
FEBS Letters, ISSN 0014-5793, 2010, Volume 584, Issue 9, pp. 1700 - 1712
The constitutive degradation of membrane components takes place in the acidic compartments of a cell, the endosomes and lysosomes. Sites of lipid degradation... 
Saposin | GM2-activator | Endosome | Sphingolipid activator protein | Lysosome | Niemann–Pick disease, type C2-protein | lysosomal lipid-binding proteins | endosomal sorting complexes required for transport | glycosphingolipid | ORP | sterol carrier protein-2 | bis(monoacylglycero)phosphate | NBD | SCP-2 | 4-nitrobenzo-2-oxa-1,3-diazol | FRET | PtdIns | ganglioside-nomenclature according to Svennerholm, compare Fig. 1 for structures | GSL | sap | BMP | ESCRT | oxysterol binding protein-related protein | sphingolipid activator protein (GM2-activator, sap-A–sap-D) | platelet activating factor | multivesicular bodies | fluorescence or Förster resonance energy transfer | NPC1 | PAF | phosphatidylinositol | NPC2 | stereospecific numbering of glycerolipids according to IUPAC | GM1, GM2, GM3 | LLBPs | Niemann–Pick disease, type C1-protein | saposin | MVBs | Niemann-Pick disease, type C2-protein | HUMAN SAPOSIN-C | INTRACELLULAR CHOLESTEROL TRAFFICKING | SPHINGOLIPID ACTIVATOR PROTEINS | ENDOCYTIC PATHWAY | BIOCHEMISTRY & MOLECULAR BIOLOGY | HUMAN GM2-ACTIVATOR PROTEIN | GAUCHER DISEASE | CELL BIOLOGY | NIEMANN-PICK-DISEASE | TRICYCLIC ANTIDEPRESSANT DESIPRAMINE | BIOPHYSICS | ACID BETA-GLUCOSIDASE | COENZYME Q10-BINDING/TRANSFER PROTEIN | G(M2) Activator Protein - metabolism | Signal Transduction | Humans | Glycoproteins - metabolism | Endocytosis - physiology | Saposins - metabolism | Animals | Carrier Proteins - metabolism | Lysosomes - metabolism | Models, Biological | Membrane Lipids - metabolism | Biological Transport - physiology | Membrane Lipids - immunology | Antigen Presentation - physiology | Lipid Metabolism - physiology
Journal Article