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
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.
Ou L et al.
Molecular Genetics and Metabolism Reports, 2019
Structural consequences of amino acid substitutions causing Tay-Sachs disease.
Ohno K et al.
Molecular Genetics and Metabolism, 2008
Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients.
Tropak MB et al.
The Journal of Biological Chemistry, 2004
Biochemical consequences of mutations causing the GM2 gangliosidoses.
Mahuran DJ
Biochimica Et Biophysica Acta, 1999
Tay-Sachs disease carrier screening: a model for prevention of genetic disease.
Kaplan F
Genetic Testing, 1998
A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts.
Fernandes MJ et al.
European Journal of Human Genetics : Ejhg, 0
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