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Gangliosidoses, GM2

Known as: GM2, Gangliosidoses, Gangliosidose, GM2, Gangliosidoses GM2 
A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes… 
National Institutes of Health

Related topics

Related topics

10 relations
BETA-N-ACETYLHEXOSAMINIDASEHEXA geneIn BloodMicrobiological

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Tay-Sachs Disease

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2016
Review
2016
The GM1 and GM2 Gangliosidoses: Natural History and Progress toward Therapy.
The gangliosidoses are lysosomal storage disorders caused by accumulation of GM1 or GM2 gangliosides. GM1 gangliosidosis has both… 
2011
2011
Adeno-associated virus-mediated expression of β-hexosaminidase prevents neuronal loss in the Sandhoff mouse brain.
Sandhoff disease, a GM2 gangliosidosis caused by a deficiency in β-hexosaminidase, is characterized by progressive… 
Highly Cited
2004
Highly Cited
2004
Possible role of autoantibodies in the pathophysiology of GM2 gangliosidoses.
Mice containing a disruption of the Hexb gene have provided a useful model system for the study of the human lysosomal storage… 
Highly Cited
1998
Highly Cited
1998
Bone marrow transplantation prolongs life span and ameliorates neurologic manifestations in Sandhoff disease mice.
The GM2 gangliosidoses are a group of severe, neurodegenerative conditions that include Tay-Sachs disease, Sandhoff disease, and… 
1995
1995
White matter changes associated with feline GM2 gangliosidosis (Sandhoff disease): correlation of MR findings with pathologic and ultrastructural abnormalities.
PURPOSE To establish changes on MR of the brain in a feline model of Sandhoff disease in order to develop standards by which this… 
Review
1991
Review
1991
The clinical aspects of adult hexosaminidase deficiencies.
The authors describe the clinical phenotypes of hexosaminidase deficiencies (GM2 gangliosidosis). The symptoms, differently… 
Highly Cited
1990
Highly Cited
1990
Increased density of the thalamus on CT scans in patients with GM2 gangliosidoses.
In 13 patients, the GM2 gangliosidoses, Sandhoff disease and Tay-Sachs disease, were found to be constantly associated with… 
Highly Cited
1989
Highly Cited
1989
Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.
Chronic and adult-onset GM2 gangliosidoses are neurological disorders caused by marked deficiency of the A isoenzyme of beta… 
Highly Cited
1985
Highly Cited
1985
Incorporation and metabolism of ganglioside GM2 in skin fibroblasts from normal and GM2 gangliosidosis subjects.
Ganglioside GM2, 3H-labeled in the sphingoid base, was added to the culture medium of normal and GM2 gangliosidosis fibroblasts… 
Highly Cited
1984
Highly Cited
1984
Usefulness of 4‐methylumbelliferyl‐6‐ sulfo‐2‐acetamido‐2‐deoxy‐β‐D‐glucopyranoside for the diagnosis of GM2 gangliosidoses in leukocytes
4‐Methylumbelliferyl‐6‐sulfo‐2‐acetamido‐2‐deoxy‐β‐D‐glucopyranoside was synthesized and tested as a substrate for the diagnosis… 
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