ReviewJournal of inherited metabolic disease1998
Glycosphingolipid degradation and animal models of GM2-gangliosidoses.
Review in Journal of inherited metabolic disease, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 50 citations in OpenAlex.
- Generation of mice with combined Hexa Gly269Ser KI or KO and Neu3 KO alleles to create new models of GM2 gangliosidoses.Biology open · 2025Article
- DANGO: An MS data annotation tool for glycolipidomics.BBA advances · 2025Article
- A multiplexed targeted method for profiling of serum gangliosides and glycosphingolipids: application to GM2-gangliosidosis.Analytical and bioanalytical chemistry · 2024Article
- Efficacy of Adeno-Associated Virus Serotype 9-Mediated Gene Therapy for AB-Variant GM2 Gangliosidosis.International journal of molecular sciences · 2023Article
- Biochemical Correction of GM2 Ganglioside Accumulation in AB-Variant GM2 Gangliosidosis.International journal of molecular sciences · 2023Article
- Characterization of a phenotypically severe animal model for human AB-Variant GM2 gangliosidosis.Frontiers in molecular neuroscience · 2023Article
- Sphingolipid lysosomal storage diseases: from bench to bedside.Lipids in health and disease · 2021Review
- Animal models of GM2 gangliosidosis: utility and limitations.The application of clinical genetics · 2016Review
- Large animal models of rare genetic disorders: sheep as phenotypically relevant models of human genetic disease.Orphanet journal of rare diseases · 2015Review
- Single cell ganglioside catabolism in primary cerebellar neurons and glia.Neurochemical research · 2012Article
- Lysosomal dysfunction in a mouse model of Sandhoff disease leads to accumulation of ganglioside-bound amyloid-β peptide.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2012Article
- Invertebrate models of lysosomal storage disease: what have we learned so far?Invertebrate neuroscience : IN · 2011Review
- Sequential proteolysis and high-field FTICR MS to determine disulfide connectivity and 4-maleimide TEMPO spin-label location in L126C GM2 activator protein.Analytical chemistry · 2009Article
- Increasing sulfatide synthesis in myelin-forming cells of arylsulfatase A-deficient mice causes demyelination and neurological symptoms reminiscent of human metachromatic leukodystrophy.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2007Article
- Towards quality assurance in the determination of lysosomal enzymes: a two-centre study.Journal of inherited metabolic disease · 2003Article
- The Caenorhabditis elegans mucolipin-like gene cup-5 is essential for viability and regulates lysosomes in multiple cell types.Proceedings of the National Academy of Sciences of the United States of America · 2002Article
- Ptosis in late infantile Tay-Sachs disease.Indian journal of pediatrics · 2001Article
- Sphingolipids and cell signalling.Journal of inherited metabolic disease · 1998Review
- Recent advances in the biochemistry of sphingolipidoses.Brain pathology (Zurich, Switzerland) · 1998Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glycosphingolipids form cell type-specific patterns on the surface of eukaryotic cells. Degradation of glycosphingolipids requires endocytic membrane flow of plasma membrane-derived glycosphingolipids into the lysosomes as the digesting organelles. The inherited deficiencies of lysosomal hydrolases and of sphingolipid activator proteins both give rise to sphingolipid storage diseases. Recent research has focused on the mechanisms leading to selective membrane degradation in the lysosomes and on the mechanism and physiological function of sphingolipid activator proteins. The GM2-degrading system is a paradigm for activator protein-dependent lysosomal degradation. Three polypeptide chains contribute to the in vivo degradation of ganglioside GM2: the alpha- and beta-chains of the beta-hexosaminidases and the GM2 activator. Mouse models of Tay-Sachs disease (alpha-chain deficiency), Sandhoff disease (beta-chain deficiency) and GM2 activator deficiency have been described. While the phenotypes of these variants of GM2-gangliosidoses are only slightly different in humans, the animal models show drastic differences in severity and course of the diseases. The reason for this is the specificity of sialidase, which is different between mouse and human. A double-knockout mouse lacking beta-hexosaminidases A, B and S shows a phenotype of mucopolysaccharidosis and gangliosidosis. A substrate deprivation approach to therapy is discussed with respect to animal models of the GM2-gangliosidoses.
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