|
Sandhoff Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tay-Sachs and Sandhoff disease (the main forms of GM2 gangliosidosis) result from mutations in either the HEXA or HEXB genes encoding, respectively, the α- or β-subunits of the lysosomal β-Hexosaminidase enzyme.
|
31682993 |
2020 |
|
Sandhoff Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
In Sandhoff disease (SD), the activity of the lysosomal hydrolytic enzyme, β-hexosaminidase (Hex), is lost due to a Hexb gene defect, which results in the abnormal accumulation of the substrate, GM2 ganglioside (GM2), in neuronal cells, causing neuronal loss, microglial activation, and astrogliosis.
|
28575132 |
2017 |
|
Sandhoff Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Sandhoff disease (SD) is caused by the loss of β-hexosaminidase (Hex) enzymatic activity in lysosomes resulting from Hexb mutations.
|
28084424 |
2017 |
|
Sandhoff Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Sandhoff disease (SD) is a rare autosomal recessive lysosomal storage disorder of sphingolipid metabolism resulting from the deficiency of β-hexosaminidase (HEX).
|
27021291 |
2016 |
|
Sandhoff Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Children with phenotypic presentation as GM2 gangliosidosis (Tay-Sachs or Sandhoff disease) and normal enzyme activity of β-hexosaminidase-A and -B in leucocytes need to be investigated for GM2 activator protein deficiency.
|
27402091 |
2016 |
|
Sandhoff Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Sandhoff disease (SD) is a fatal neurodegenerative disease caused by a mutation in the enzyme β-N-acetylhexosaminidase.
|
25971245 |
2016 |
|
Sandhoff Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The present study is aimed to determine mutations spectrum and molecular pathology leading to SD in 22 unrelated patients confirmed by the deficiency of β-hexosaminidase-A and total-hexosaminidase in leukocytes.
|
26582265 |
2016 |
|
Sandhoff Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We have shown that expression of β-hexosaminidase by intracranial delivery of recombinant adeno-associated viral vectors to young adult SD mice can prevent many features of the disease and extends lifespan.
|
24057669 |
2014 |
|
Sandhoff Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype.
|
23127958 |
2013 |
|
Sandhoff Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Conditional expression of human β-hexosaminidase in the neurons of Sandhoff disease rescues mice from neurodegeneration but not neuroinflammation.
|
22863301 |
2012 |
|
Sandhoff Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To develop a novel enzyme replacement therapy for neurodegenerative Tay-Sachs disease (TSD) and Sandhoff disease (SD), which are caused by deficiency of β-hexosaminidase (Hex) A, we designed a genetically engineered HEXB encoding the chimeric human β-subunit containing partial amino acid sequence of the α-subunit by structure-based homology modeling.
|
21487393 |
2011 |
|
Sandhoff Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Sandhoff disease is a lysosomal storage disorder characterized by the absence of β-hexosaminidase and storage of GM2 ganglioside and related glycolipids.
|
20856892 |
2010 |
|
Sandhoff Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Sandhoff disease (SD) is a lysosomal storage disorder due to mutations in the gene encoding for the beta-subunit of beta-hexosaminidase, that result in beta-hexosaminidase A (alphabeta) and beta-hexosaminidase B (betabeta) deficiency.
|
19823769 |
2010 |
|
Sandhoff Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Induced secretion of beta-hexosaminidase by human brain endothelial cells: a novel approach in Sandhoff disease?
|
20005954 |
2010 |
|
Sandhoff Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Sandhoff disease (SD) is a glycosphingolipid (GSL) storage disease that arises from an autosomal recessive mutation in the gene for the beta-subunit of beta-Hexosaminidase A (Hexb gene), which catabolizes ganglioside GM2 within lysosomes.
|
19034545 |
2009 |
|
Sandhoff Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Design, synthesis, and biological evaluation of enantiomeric beta-N-acetylhexosaminidase inhibitors LABNAc and DABNAc as potential agents against Tay-Sachs and Sandhoff disease.
|
19145603 |
2009 |
|
Sandhoff Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Therapeutic effects of Hex subunit gene transduction have been examined on Sandhoff disease model mice (SD mice) produced by the allelic disruption of Hexb gene encoding the murine beta-subunit.
|
16880605 |
2006 |
|
Sandhoff Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Sandhoff disease is an autosomal recessive lysosomal storage disease caused by a defect of the beta-subunit gene (HEXB) associated with simultaneous deficiencies of beta-hexosaminidase A (HexA; alphabeta) and B (HexB; betabeta), and excessive accumulation of GM2 ganglioside (GM2) and oligosaccharides with N-acetylglucosamine (GlcNAc) residues at their non-reducing termini.
|
16092933 |
2005 |
|
Sandhoff Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The X-ray crystal structure of human beta-hexosaminidase B provides new insights into Sandhoff disease.
|
12706724 |
2003 |
|
Sandhoff Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
1260 non-pregnant subjects of French Canadian background were included in the study. beta hexosaminidase activity was measured in blood samples, and results were evaluated for TSD and Sandhoff disease heterozygosity.
|
9368869 |
1997 |
|
Sandhoff Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tay-Sachs and Sandhoff diseases are autosomal recessive neurodegenerative diseases resulting from the inability to catabolize GM2 ganglioside by beta-hexosaminidase A (Hex A) due to mutations of the alpha subunit (Tay-Sachs disease) or beta subunit (Sandhoff disease) of Hex A. Hex B (beta beta homodimer) is also defective in Sandhoff disease.
|
9302266 |
1997 |
|
Sandhoff Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Tay-Sachs disease and Sandhoff disease are severe neurodegenerative disorders caused by a deficiency of beta-hexosaminidase A and resultant accumulation of its substrate, GM2 ganglioside, in neuronal lysosomes.
|
9562524 |
1997 |
|
Sandhoff Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Lacking both the alpha and beta-subunits these 'double knockout' mice displayed a total deficiency of all forms of lysosomal beta-hexosaminidase including the small amount of beta-hexosaminidase S present in the Sandhoff disease model mice.
|
8896570 |
1996 |
|
Sandhoff Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The molecular defects in the HEXB gene encoding the common beta-subunit of lysosomal beta-hexosaminidase A (beta-Hex A, alpha beta) and beta-Hex B (beta beta) were investigated in a Portuguese family affected with late onset Sandhoff disease (GM2-gangliosidosis variant 0).
|
8950198 |
1996 |
|
Sandhoff Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Deficiency of the lysosomal enzyme beta-hexosaminidase B (beta-Hex B) (a homodimer, beta beta), caused by a defect in the HEX B gene encoding the beta-chain, is usually accompanied by an absence of beta-Hex A (a heterodimer, alpha beta), thereby causing Sandhoff disease.
|
8106452 |
1994 |