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
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.
Ou L et al.
Molecular Genetics and Metabolism Reports, 2019
Tay-Sachs disease: a novel mutation from India.
Khera D et al.
Bmj Case Reports, 2018
Mutation Frequency of Three Neurodegenerative Lysosomal Storage Diseases: From Screening to Treatment?
Duarte AJ et al.
Archives of Medical Research, 2017
Molecular study of lysosomal storage disorders in India.
Sheth J
Molecular Cytogenetics, 2014
Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.
Sheth J et al.
Molecular Genetics and Metabolism Reports, 2014
Structural consequences of amino acid substitutions causing Tay-Sachs disease.
Ohno K et al.
Molecular Genetics and Metabolism, 2008
Structural basis of the GM2 gangliosidosis B variant.
Matsuzawa F et al.
Journal of Human Genetics, 2003
Tay-Sachs disease carrier screening: a model for prevention of genetic disease.
Kaplan F
Genetic Testing, 1998
Identification of candidate active site residues in lysosomal beta-hexosaminidase A.
Fernandes MJ et al.
The Journal of Biological Chemistry, 1997
GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A.
Peleg L et al.
Biochemical and Molecular Medicine, 1995
Tay-Sachs disease screening and diagnosis: evolving technologies.
Hechtman P et al.
Dna and Cell Biology, 1993
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