Associated Papers
In-silico screening and microsecond molecular dynamics simulations to identify single point mutations that destabilize β-hexosaminidase A causing Tay-Sachs disease.
Almanasra A et al.
Proteins, 2021
In silico analysis of the effects of disease-associated mutations of β-hexosaminidase A in Tay-Sachs disease.
Ihsan Fazal M et al.
Journal of Genetics, 2020
Structural consequences of amino acid substitutions causing Tay-Sachs disease.
Ohno K et al.
Molecular Genetics and Metabolism, 2008
Evaluation of the risk for Tay-Sachs disease in individuals of French Canadian ancestry living in new England.
Martin DC et al.
Clinical Chemistry, 2007
Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA.
Wicklow BA et al.
American Journal of Medical Genetics. Part A, 2004
A novel mutation in the HEXA gene specific to Tay-Sachs disease carriers of Jewish Iraqi origin.
Karpati M et al.
Clinical Genetics, 2000
Tay-Sachs disease carrier screening: a model for prevention of genetic disease.
Kaplan F
Genetic Testing, 1998
W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.
Petroulakis E et al.
Human Mutation, 1998
Benign HEXA mutations, C739T(R247W) and C745T(R249W), cause beta-hexosaminidase A pseudodeficiency by reducing the alpha-subunit protein levels.
Cao Z et al.
The Journal of Biological Chemistry, 1997
Identification of candidate active site residues in lysosomal beta-hexosaminidase A.
Fernandes MJ et al.
The Journal of Biological Chemistry, 1997
Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.
Myerowitz R
Human Mutation, 1997
Bacterial chitobiase structure provides insight into catalytic mechanism and the basis of Tay-Sachs disease.
Tews I et al.
Nature Structural Biology, 1996
Tay-Sachs disease screening and diagnosis: evolving technologies.
Hechtman P et al.
Dna and Cell Biology, 1993
A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family.
Trop I et al.
Human Mutation, 1992
Screening people of Jewish origin for Tay-Sachs disease carriers.
Hecht F
Arizona Medicine, 1981
Juvenile Tay Sachs Disease Due to Compound Heterozygous Mutation in Hex-A Gene, with Early Sign of Bilateral Tremors.
Sheth J et al.
Annals of Indian Academy of Neurology, 0
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