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Sandhoff Disease

Known as: Sandhoff Jatzkewitz disease, GM2 Gangliosidosis, Type II, Hexosaminidase A and B Deficiency Disease 
An autosomal recessive inherited lysosomal storage disorder caused by mutations in the HEXB gene. It is characterized by deficiency of the enzyme… 
National Institutes of Health

Related topics

Related topics

15 relations
BETA-N-ACETYLHEXOSAMINIDASEG(M2) GangliosideHexosaminidase AIn Blood

Broader (3)

Cerebral lipidosesEnzyme DeficiencyGangliosidoses

Narrower (1)

Infantile Sandhoff Disease

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2013
Review
2013
Lysophospholipids and their receptors in the central nervous system.
Highly Cited
2006
Highly Cited
2006
Hypoxic culture induces expression of sialin, a sialic acid transporter, and cancer-associated gangliosides containing non-human sialic acid on human cancer cells.
Tumor hypoxia figures heavily in malignant progression by altering the intracellular glucose metabolism and inducing angiogenic… 
Highly Cited
2004
Highly Cited
2004
Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice.
Sandhoff disease is a prototypical lysosomal storage disorder in which a heritable deficiency of a lysosomal enzyme, beta… 
Highly Cited
2000
Highly Cited
2000
Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation.
Sandhoff disease is a lysosomal storage disorder characterized by the absence of beta-hexosaminidase and storage of G(M2… 
Highly Cited
1999
Highly Cited
1999
Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin.
Sandhoff disease is a neurodegenerative disorder resulting from the autosomal recessive inheritance of mutations in the HEXB gene… 
Review
1999
Review
1999
Biochemical consequences of mutations causing the GM2 gangliosidoses.
  • D. Mahuran
  • Biochimica et biophysica acta
  • 1999
  • Corpus ID: 25277998
Highly Cited
1997
Highly Cited
1997
Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases.
Tay-Sachs and Sandhoff diseases are autosomal recessive neurodegenerative diseases resulting from the inability to catabolize GM2… 
Highly Cited
1996
Highly Cited
1996
Bacterial chitobiase structure provides insight into catalytic mechanism and the basis of Tay–Sachs disease
Chitin, the second most abundant polysaccharide on earth, is degraded by chitinases and chitobiases. The structure of Serratia… 
Highly Cited
1974
Highly Cited
1974
A recognition marker required for uptake of a lysosomal enzyme by cultured fibroblasts.
Highly Cited
1971
Highly Cited
1971
ENZYME ALTERATIONS AND LIPID STORAGE IN THREE VARIANTS OF TAY‐SACHS DISEASE
In autopsy tissues of 12 cases of Tay‐Sachs disease the N‐acetyl‐β‐hexosamini‐dase A and B activities were investigated using… 
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