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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… Expand
National Institutes of Health

Related topics

Related topics

15 relations
BETA-N-ACETYLHEXOSAMINIDASEG(M2) GangliosideHexosaminidase AIn Blood
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Broader (3)

Cerebral lipidosesEnzyme DeficiencyGangliosidoses

Narrower (1)

Infantile Sandhoff Disease

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
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… Expand
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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… Expand
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Highly Cited
2003
Highly Cited
2003
Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease.
In humans, two major beta-hexosaminidase isoenzymes exist: Hex A and Hex B. Hex A is a heterodimer of subunits alpha and beta (60… Expand
Highly Cited
2003
Highly Cited
2003
Inhibition of Calcium Uptake via the Sarco/Endoplasmic Reticulum Ca2+-ATPase in a Mouse Model of Sandhoff Disease and Prevention by Treatment with N-Butyldeoxynojirimycin*
Gangliosides are found at high levels in neuronal tissues where they play a variety of important functions. In the gangliosidoses… Expand
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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… Expand
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… Expand
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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… Expand
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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… Expand
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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… Expand
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… Expand
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