Sandhoff Disease
|
1.000 |
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
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sandhoff disease (SD) results from mutations in the HEXB gene, subsequent deficiency of N-acetyl-β-hexosaminidase (Hex) and accumulation of GM2 gangliosides.
|
30236619 |
2019 |
Sandhoff Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sandhoff disease (SD) is a genetic disorder caused by a mutation of HEXB, which is the β-subunit gene of β-hexosaminidase A and B (HexA and HexB) in humans.
|
31340161 |
2019 |
Sandhoff Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis.
|
29448188 |
2018 |
Sandhoff Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, abnormal differentiation toward a neural lineage was reduced in SD-iPSCs with Hexb gene transfection.
|
28575132 |
2017 |
Sandhoff Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease.
|
27021291 |
2016 |
Sandhoff Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sandhoff disease (SD) is an autosomal recessive neurodegenerative lysosomal storage disorder caused by mutations in HEXB gene.
|
26582265 |
2016 |
Sandhoff Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the HEXB gene cause Sandhoff disease.
|
27021291 |
2016 |
Sandhoff Disease
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Sandhoff Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity.
|
27682710 |
2016 |
Sandhoff Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease.
|
26582265 |
2016 |
Sandhoff Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease.
|
26582265 |
2016 |
Sandhoff Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency.
|
25736553 |
2015 |
Sandhoff Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
Sandhoff Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus.
|
24613245 |
2014 |
Sandhoff Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Chaperone therapy for GM2 gangliosidosis: effects of pyrimethamine on β-hexosaminidase activity in Sandhoff fibroblasts.
|
24356898 |
2014 |
Sandhoff Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus.
|
24613245 |
2014 |
Sandhoff Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Integrated multiplex ligation dependent probe amplification (MLPA) assays for the detection of alterations in the HEXB, GM2A and SMARCAL1 genes to support the diagnosis of Morbus Sandhoff, M. Tay-Sachs variant AB and Schimke immuno-osseous dysplasia in humans.
|
23010210 |
2013 |
Sandhoff Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The adult form of Sandhoff disease with the motor neuron disease phenotype is a rare neurodegenerative disorder caused by mutations in HEXB encoding the β-subunit of β-hexosaminidase, yet the properties of mutant β-subunits of the disease have not been fully determined.
|
23127958 |
2013 |
Sandhoff Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
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
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Adult Sandhoff disease with 2 mutations in the HEXB gene presenting as brachial amyotrophic diplegia.
|
24263030 |
2013 |
Sandhoff Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis.
|
23759947 |
2013 |
Sandhoff Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sandhoff disease (SD) is an autosomal recessive lysosomal storage disease caused by mutations in the HEXB gene encoding the beta subunit of hexosaminidases A and B, two enzymes involved in GM2 ganglioside degradation.
|
23046579 |
2013 |
Sandhoff Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis.
|
23759947 |
2013 |
Sandhoff Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients.
|
23046579 |
2013 |