 Gangliosidoses, GM2
"Gangliosidoses, GM2" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.
| Descriptor ID |
D020143
|
| MeSH Number(s) |
C10.228.140.163.100.435.825.300.300 C16.320.565.189.435.825.300.300 C16.320.565.398.641.803.350.300 C16.320.565.595.554.825.300.300 C18.452.132.100.435.825.300.300 C18.452.584.687.803.350.300 C18.452.648.189.435.825.300.300 C18.452.648.398.641.803.350.300 C18.452.648.595.554.825.300.300
|
| Concept/Terms |
Gangliosidoses, GM2- Gangliosidoses, GM2
- GM2 Gangliosidose
- Gangliosidose, GM2
- Gangliosidoses GM2
- GM2, Gangliosidoses
- G(M2) Gangliosidoses
- GM2 Gangliosidosis
- GM2 Gangliosidoses
- Gangliosidosis, GM2
|
Below are MeSH descriptors whose meaning is more general than "Gangliosidoses, GM2".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
- Sphingolipidoses [C10.228.140.163.100.435.825]
- Gangliosidoses [C10.228.140.163.100.435.825.300]
- Gangliosidoses, GM2 [C10.228.140.163.100.435.825.300.300]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Lysosomal Storage Diseases, Nervous System [C16.320.565.189.435]
- Sphingolipidoses [C16.320.565.189.435.825]
- Gangliosidoses [C16.320.565.189.435.825.300]
- Gangliosidoses, GM2 [C16.320.565.189.435.825.300.300]
- Lipid Metabolism, Inborn Errors [C16.320.565.398]
- Lipidoses [C16.320.565.398.641]
- Sphingolipidoses [C16.320.565.398.641.803]
- Gangliosidoses [C16.320.565.398.641.803.350]
- Gangliosidoses, GM2 [C16.320.565.398.641.803.350.300]
- Lysosomal Storage Diseases [C16.320.565.595]
- Lysosomal Storage Diseases, Nervous System [C16.320.565.595.554]
- Sphingolipidoses [C16.320.565.595.554.825]
- Gangliosidoses [C16.320.565.595.554.825.300]
- Gangliosidoses, GM2 [C16.320.565.595.554.825.300.300]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Lysosomal Storage Diseases, Nervous System [C18.452.132.100.435]
- Sphingolipidoses [C18.452.132.100.435.825]
- Gangliosidoses [C18.452.132.100.435.825.300]
- Gangliosidoses, GM2 [C18.452.132.100.435.825.300.300]
- Lipid Metabolism Disorders [C18.452.584]
- Lipidoses [C18.452.584.687]
- Sphingolipidoses [C18.452.584.687.803]
- Gangliosidoses [C18.452.584.687.803.350]
- Gangliosidoses, GM2 [C18.452.584.687.803.350.300]
- Metabolism, Inborn Errors [C18.452.648]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Lysosomal Storage Diseases, Nervous System [C18.452.648.189.435]
- Sphingolipidoses [C18.452.648.189.435.825]
- Gangliosidoses [C18.452.648.189.435.825.300]
- Gangliosidoses, GM2 [C18.452.648.189.435.825.300.300]
- Lipid Metabolism, Inborn Errors [C18.452.648.398]
- Lipidoses [C18.452.648.398.641]
- Sphingolipidoses [C18.452.648.398.641.803]
- Gangliosidoses [C18.452.648.398.641.803.350]
- Gangliosidoses, GM2 [C18.452.648.398.641.803.350.300]
- Lysosomal Storage Diseases [C18.452.648.595]
- Lysosomal Storage Diseases, Nervous System [C18.452.648.595.554]
- Sphingolipidoses [C18.452.648.595.554.825]
- Gangliosidoses [C18.452.648.595.554.825.300]
- Gangliosidoses, GM2 [C18.452.648.595.554.825.300.300]
Below are MeSH descriptors whose meaning is more specific than "Gangliosidoses, GM2".
This graph shows the total number of publications written about "Gangliosidoses, GM2" by people in this website by year, and whether "Gangliosidoses, GM2" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2006 | 1 | 0 | 1 | | 2007 | 2 | 0 | 2 | | 2009 | 1 | 0 | 1 | | 2010 | 1 | 0 | 1 | | 2012 | 0 | 1 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Gangliosidoses, GM2" by people in Profiles.
-
Al-Maawali A, Blaser S, Yoon G. Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients. J Child Neurol. 2012 Sep; 27(9):1121-32.
-
Clarke JT, Mahuran DJ, Sathe S, Kolodny EH, Rigat BA, Raiman JA, Tropak MB. An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants). Mol Genet Metab. 2011 Jan; 102(1):6-12.
-
Maegawa GH, Banwell BL, Blaser S, Sorge G, Toplak M, Ackerley C, Hawkins C, Hayes J, Clarke JT. Substrate reduction therapy in juvenile GM2 gangliosidosis. Mol Genet Metab. 2009 Sep-Oct; 98(1-2):215-24.
-
Tropak MB, Mahuran D. Lending a helping hand, screening chemical libraries for compounds that enhance beta-hexosaminidase A activity in GM2 gangliosidosis cells. FEBS J. 2007 Oct; 274(19):4951-61.
-
Maegawa GH, Tropak M, Buttner J, Stockley T, Kok F, Clarke JT, Mahuran DJ. Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis. J Biol Chem. 2007 Mar 23; 282(12):9150-61.
-
Maegawa GH, Stockley T, Tropak M, Banwell B, Blaser S, Kok F, Giugliani R, Mahuran D, Clarke JT. The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported. Pediatrics. 2006 Nov; 118(5):e1550-62.
|
People  People who have written about this concept. _
Similar Concepts
People who have written about this concept.
_
Top Journals
Top journals in which articles about this concept have been published.
|