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
Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India.
Mistri M et al.
Journal of Human Genetics, 2019
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.
Ou L et al.
Molecular Genetics and Metabolism Reports, 2019
Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.
Tanaka A et al.
Journal of Human Genetics, 2003
Tay-Sachs disease carrier screening: a model for prevention of genetic disease.
Kaplan F
Genetic Testing, 1998
Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant.
Ribeiro MG et al.
Journal of Medical Genetics, 1996
[Late infantile and juvenile form of GM2-gangliosidosis variant B1].
Eirís J et al.
Revista De Neurologia, 0
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