FAQ

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… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1973-2017
05101519732017

Related topics

Related topics

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

Cerebral lipidosesEnzyme DeficiencyGangliosidoses

Narrower (2)

Infantile Sandhoff DiseaseJuvenile Sandhoff Disease

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Sandhoff Disease
radiotherapeutic
prevention & control
Microbiological
nursing therapy
chemically induced

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2007
Highly Cited
2007
Stem cells act through multiple mechanisms to benefit mice with neurodegenerative metabolic disease
Intracranial transplantation of neural stem cells (NSCs) delayed disease onset, preserved motor function, reduced pathology and… (More)
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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… (More)
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2004
2004
NSAIDs increase survival in the Sandhoff disease mouse: synergy with N-butyldeoxynojirimycin.
The GM2 gangliosidoses are caused by incomplete catabolism of GM2 ganglioside in the lysosome, leading to progressive storage and… (More)
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2003
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… (More)
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2001
2001
Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation.
Sandhoff disease is a lysosomal storage disorder characterized by G(M2) ganglioside accumulation in the central nervous system… (More)
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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… (More)
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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… (More)
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1999
1999
Neuroimaging findings of four patients with Sandhoff disease.
Sandhoff disease is a severe form of GM2 gangliosidosis that is caused by the deficiency of both hexosaminidase A and B. Startle… (More)
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1997
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… (More)
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Highly Cited
1996
Highly Cited
1996
Mice lacking both subunits of lysosomal β–hexosaminidase display gangliosidosis and mucopolysaccharidosis
The GM2 gangliosidoses, Tay-Sachs and Sandhoff diseases, are caused by mutations in the HEXA (α-subunit) and HEXB (β-subunit… (More)
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