|
Gangliosidoses, GM2
|
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 |
|
Gangliosidoses, GM2
|
0.100 |
Biomarker
|
disease |
BEFREE |
Protease-resistant modified human β-hexosaminidase B ameliorates symptoms in GM2 gangliosidosis model.
|
27018595 |
2016 |
|
Gangliosidoses, GM2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The GM2 gangliosidoses are progressive neurodegenerative disorders due to defects in the lysosomal β-N-acetylhexosaminidase system.
|
24057669 |
2014 |
|
Gangliosidoses, GM2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These results provide additional insight into juvenile-onset G(M2)-gangliosidoses and further expand the number of β-hexosaminidase mutations associated with motor neuron disease.
|
23158871 |
2013 |
|
Gangliosidoses, GM2
|
0.100 |
Biomarker
|
disease |
BEFREE |
GM1 and GM2 gangliosidosis are associated with deficiency of β-galactosidase and β-hexosaminidase respectively.
|
23622392 |
2013 |
|
Gangliosidoses, GM2
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Reversible transgenic expression of β-hexosaminidase directed by two promoters, mouse Hexb and human Synapsin 1 promoters, permitted progression of GM2 gangliosidosis in Sandhoff mice to be modified at pre-defined ages.
|
23028353 |
2012 |
|
Gangliosidoses, GM2
|
0.100 |
Biomarker
|
disease |
BEFREE |
Therapeutic potential of intracerebroventricular replacement of modified human β-hexosaminidase B for GM2 gangliosidosis.
|
21487393 |
2011 |
|
Gangliosidoses, GM2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Novel recombinant human lysosomal β-hexosaminidase A (HexA) was developed for enzyme replacement therapy (ERT) for Tay-Sachs and Sandhoff diseases, ie, autosomal recessive GM2 gangliosidoses, caused by HexA deficiency.
|
21520232 |
2011 |
|
Gangliosidoses, GM2
|
0.100 |
Biomarker
|
disease |
BEFREE |
GM2 gangliosidosis type Sandhoff is caused by a defect of beta-hexosaminidase, an enzyme involved in the catabolism of gangliosides.
|
20821051 |
2010 |
|
Gangliosidoses, GM2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
GM(2)-gangliosidosis is a rare and heterogeneous inherited metabolic disorder caused by autosomal recessive mutations in genes encoding the lysosomal enzyme β-hexosaminidase, resulting in the accumulation of ganglioside GM(2) in various tissues, particularly the central nervous system.
|
19898953 |
2009 |
|
Gangliosidoses, GM2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Eight mutations of the alpha subunit of beta-hexosaminidase A gene ( HEXA) were identified in eight patients with GM2 gangliosidosis variant B.
|
14566483 |
2003 |
|
Gangliosidoses, GM2
|
0.100 |
Biomarker
|
disease |
BEFREE |
TS disease is a GM2 gangliosidosis attributed to the deficiency of the lysosomal enzyme beta-hexosaminidase A (HexA) (beta-N-acetylhexosaminidase, EC ).
|
11923278 |
2002 |
|
Gangliosidoses, GM2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The GM2 gangliosidoses are a group of heritable neurodegenerative disorders caused by excessive accumulation of the ganglioside GM2 owing to deficiency in beta-hexosaminidase activity.
|
9572057 |
1998 |
|
Gangliosidoses, GM2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The GM2 gangliosidoses are caused by mutations in the genes encoding the alpha- (Tay-Sachs) or beta- (Sandhoff) subunits of heterodimeric beta-hexosaminidase A (Hex A), or the GM2 activator protein (AB variant), a substrate-specific co-factor for Hex A.
|
9694901 |
1998 |
|
Gangliosidoses, GM2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The deficiency of beta-hexosaminidase A (Hex A) in this form of GM2 gangliosidosis has been invariably associated with the presence of the Gly269-->Ser substitution in the alpha-chain.
|
8757036 |
1996 |
|
Gangliosidoses, GM2
|
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 |
|
Gangliosidoses, GM2
|
0.100 |
Biomarker
|
disease |
BEFREE |
More recently, all three genes coding for the three proteins each responsible for distinct genetic forms of GM2-gangliosidosis--beta-hexosaminidase alpha and beta subunits and the GM2 activator protein--have been cloned and many disease-causing mutations have been identified.
|
8021707 |
1994 |
|
Gangliosidoses, GM2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The values of beta-hexosaminidase activities studied in plasma, leukocytes, and fibroblasts obtained using two different substrates (MUG-NAc and MUG-NAc-6-S) were significantly reduced but higher than in Tay-Sachs disease and similar to those found in the juvenile chronic form of GM2 gangliosidosis.
|
1532632 |
1992 |
|
Gangliosidoses, GM2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients.
|
1827945 |
1991 |
|
Gangliosidoses, GM2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the HEX A gene, encoding the alpha-subunit of beta-hexosaminidase A (Hex A), are the cause of Tay-Sachs disease as well as of juvenile, chronic, and adult GM2 gangliosidoses.
|
2220809 |
1990 |
|
Gangliosidoses, GM2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.
|
2522660 |
1989 |
|
Gangliosidoses, GM2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant.
|
2970528 |
1988 |
|
Gangliosidoses, GM2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Presence of beta-hexosaminidase A alpha-chain mRNA in two different variants of GM2-gangliosidosis.
|
2967444 |
1988 |
|
Gangliosidoses, GM2
|
0.100 |
Biomarker
|
disease |
BEFREE |
Studies on complementation of beta hexosaminidase deficiency in human GM2 gangliosidosis.
|
817596 |
1976 |
|
Gangliosidoses, GM2
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Characterization of Hex S, the major residual beta hexosaminidase activity in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease).
|
240271 |
1975 |