|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation.
|
27682588 |
2016 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
|
22789865 |
2012 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.
|
16088929 |
2005 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant).
|
2144098 |
1990 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.
|
8445615 |
1993 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutation.
|
7887427 |
1995 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have identified three mutations in the beta-hexoseaminidase A (HEXA) gene in a juvenile Tay-Sachs disease (TSD) patient, which exhibited a reduced level of HEXA mRNA.
|
20363167 |
2010 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
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 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Molecular genetics of Tay-Sachs disease in Japan.
|
7837766 |
1994 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Novel mutations, including the second most common in Japan, in the beta-hexosaminidase alpha subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease.
|
10083731 |
1999 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease.
|
2522679 |
1989 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tay-Sachs disease (TSD) is an autosomal recessive genetic disorder resulting from mutation of the HEXA gene encoding the alpha-subunit of the lysosomal enzyme, beta-N-acetylhexosaminidase A (Hex A).
|
1301938 |
1992 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We aimed to determine mutations leading to TSD in India by complete sequencing of the HEXA gene.
|
22723944 |
2012 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the HEXA gene cause Tay-Sachs disease (TSD), a GM2 ganglioside storage disorder.
|
8995368 |
1997 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Synthesis of beta-hexosaminidase in cell-free translation and in intact fibroblasts: an insoluble precursor alpha chain in a rare form of Tay-Sachs disease.
|
6959123 |
1982 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have examined the NMD of a mutant HEXA message in lymphoblasts derived from a Tay-Sachs disease patient homozygous for the common frameshift mutation 1278ins4.
|
11463833 |
2001 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.
|
9150157 |
1997 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Rapid detection of fetal Mendelian disorders: Tay-Sachs disease.
|
18425478 |
2008 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tay-Sachs disease (TSD) is a rare neurodegenerative disorder caused by autosomal recessive mutations in the HEXA gene on chromosome 15 that encodes β-hexosaminidase.
|
30220252 |
2018 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tay-Sachs disease (TSD) is an inherited neurodegenerative disorder caused by a lysosomal β-hexosaminidase A deficiency due to mutations in the HEXA gene.
|
31076878 |
2019 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we report an animal model (American flamingo; Phoenicopterus ruber) of TSD with Hex A deficiency occurring spontaneously in nature, with accumulation of G(M2)-ganglioside, deficiency of Hex A enzymatic activity, and a homozygous P469L mutation in exon 12 of the hexa gene.
|
18693054 |
2008 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.
|
1322637 |
1992 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Late-onset Tay-Sachs disease presenting as a childhood stutter.
|
19091716 |
2009 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In a previous study we found that a Tay-Sachs disease (TSD) causing mutation in the intron 9 donor splice site of the HEXA gene occurs at high frequency in non-Jewish patients and carriers from the British Isles.
|
8326491 |
1993 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Two novel exonic point mutations in HEXA identified in a juvenile Tay-Sachs patient: role of alternative splicing and nonsense-mediated mRNA decay.
|
20363167 |
2010 |