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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.
Highly Cited
2018
Highly Cited
2018
Cerebral organoids derived from Sandhoff disease-induced pluripotent stem cells exhibit impaired neurodifferentiation[S]
Sandhoff disease, one of the GM2 gangliosidoses, is a lysosomal storage disorder characterized by the absence of β-hexosaminidase… 
Highly Cited
2014
Highly Cited
2014
Widespread correction of central nervous system disease after intracranial gene therapy in a feline model of Sandhoff disease
Sandhoff disease (SD) is caused by deficiency of N-acetyl-β-hexosaminidase (Hex) resulting in pathological accumulation of GM2… 
Highly Cited
2008
Highly Cited
2008
Sphingosine kinase 1/S1P receptor signaling axis controls glial proliferation in mice with Sandhoff disease.
Sphingosine-1-phosphate (S1P) is a lipid-signaling molecule produced by sphingosine kinase in response to a wide number of… 
Highly Cited
2006
Highly Cited
2006
Influences of forest type and forest structure on bird communities in oak and pine woodlands in Spain
Review
1999
Review
1999
Biochemical consequences of mutations causing the GM2 gangliosidoses.
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… 
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
1985
Highly Cited
1985
Characterization of a new model of GM2-gangliosidosis (Sandhoff's disease) in Korat cats.
We have detected a disorder in Korat cats (initially imported from Thailand) that is analogous to human Sandhoff's disease… 
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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