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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

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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
Prevalence of lysosomal storage diseases in Portugal
Lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders individually considered as rare, and few data on… 
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
2003
Highly Cited
2003
Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis.
Mouse models of the GM2 gangliosidoses [Tay-Sachs, late onset Tay-Sachs (LOTS), Sandhoff] and GM1 gangliosidosis have been… 
Review
1999
Review
1999
Biochemical consequences of mutations causing the GM2 gangliosidoses.
  • D. Mahuran
  • Biochimica et Biophysica Acta
  • 1999
  • Corpus ID: 25277998
1992
1992
Accumulation of Lysosphingolipids in Tissues from Patients with GM1 and GM2 Gangliosidoses
Abstract: By using a sensitive method, we assayed lysocom‐pounds of gangliosides and asialogangliosides in tissues from four… 
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… 
1990
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
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… 
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